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| Search Keyword: |  Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors |
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| Explore mutations supported or not supported by publications registered in PubMed |
- Abdalla, E. M., M. Rohrbach, C. Burer, M. Kraenzlin, H. El-Tayeby, M. F. Elbelbesy, A. Nabil and C. Giunta (2015). "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." Eur J Pediatr 174(1): 105-112 - DOI - PubMed - Mutations
- Brinckmann, J., Y. Acil, S. Feshchenko, E. Katzer, R. Brenner, A. Kulozik and S. Kugler (1998). "Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)." Arch Dermatol Res 290(4): 181-186 - DOI - PubMed - Mutations
- Dembure, P. P., J. H. Priest, S. C. Snoddy and L. J. Elsas (1984). "Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI." Am J Hum Genet 36(4): 783-790 - DOI - PubMed - Mutations
- Dembure, P. P., A. R. Janko, J. H. Priest and L. J. Elsas (1987). "Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI." Metabolism 36(7): 687-691 - DOI - PubMed - Mutations
- Elsas, L. J., 2nd, R. L. Miller and S. R. Pinnell (1978). "Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response." J Pediatr 92(3): 378-384 - DOI - PubMed - Mutations
- Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke S, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. (2019) "Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications." Journal of Medical Genetics, in press - DOI - PubMed - Mutations
- Giunta, C., A. Randolph and B. Steinmann (2005). "Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Mol Genet Metab 86(1-2): 269-276 - DOI - PubMed - Mutations
- Giunta, C., A. Randolph, L. I. Al-Gazali, H. G. Brunner, M. E. Kraenzlin and B. Steinmann (2005). "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." Am J Med Genet A 133A(2): 158-164. - DOI - PubMed - Mutations
- Guo, H. F., C. L. Tsai, M. Terajima, X. Tan, P. Banerjee, M. D. Miller, X. Liu, J. Yu, J. Byemerwa, S. Alvarado, T. S. Kaoud, K. N. Dalby, N. Bota-Rabassedas, Y. Chen, M. Yamauchi, J. A. Tainer, G. N. Phillips, Jr. and J. M. Kurie (2018). "Pro-metastatic collagen lysyl hydroxylase dimer assemblies stabilized by Fe(2+)-binding." Nat Commun 9(1): 512 - DOI - PubMed - Mutations
- Ha, V. T., M. K. Marshall, L. J. Elsas, S. R. Pinnell and H. N. Yeowell (1994). "A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene." J Clin Invest 93(4): 1716-1721 - DOI - PubMed - Mutations
- Ha-Vinh, R., Y. Alanay, R. A. Bank, A. B. Campos-Xavier, A. Zankl, A. Superti-Furga and L. Bonafe (2004). "Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2." Am J Med Genet A 131(2): 115-120 - DOI - PubMed - Mutations
- Heikkinen, J., T. Toppinen, H. Yeowell, T. Krieg, B. Steinmann, K. I. Kivirikko and R. Myllyla (1997). "Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome." Am J Hum Genet 60(1): 48-56. - DOI - PubMed - Mutations
- Heikkinen, J., B. Pousi, M. Pope and R. Myllyla (1999). "A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI." Hum Mutat 14(4): 351. - DOI - PubMed - Mutations
- Heikkinen, J., M. Risteli, C. Wang, J. Latvala, M. Rossi, M. Valtavaara and R. Myllyla (2000). "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity." J Biol Chem 275(46): 36158-36163 - DOI - PubMed - Mutations
- Hyland, J., L. Ala-Kokko, P. Royce, B. Steinmann, K. I. Kivirikko and R. Myllyla (1992). "A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI." Nat Genet 2(3): 228-231 - DOI - PubMed - Mutations
- Hyry, M., J. Lantto and J. Myllyharju (2009). "Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2." J Biol Chem 284(45): 30917-30924 - DOI - PubMed - Mutations
- Ihme, A., T. Krieg, A. Nerlich, U. Feldmann, J. Rauterberg, R. W. Glanville, G. Edel and P. K. Muller (1984). "Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues." J Invest Dermatol 83(3): 161-165. - DOI - PubMed - Mutations
- Kariminejad, A., B. Bozorgmehr, A. Khatami, M. H. Kariminejad, C. Giunta and B. Steinmann (2010). "Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?" Iran J Pediatr 20(3): 358-362 - DOI - PubMed - Mutations
- Miller, R. L., L. J. Elsas and R. E. Priest (1979). "Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts." J Invest Dermatol 72(5): 241-247 - DOI - PubMed - Mutations
- Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., Mcalister, W. H., Whyte, M. P. (2019). "Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous plod2 mutation." Bone, 115047. - DOI - PubMed - Mutations
- Pajunen, L., M. Suokas, T. Hautala, S. Kellokumpu, B. Tebbe, K. I. Kivirikko and R. Myllyla (1998). "A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI." DNA Cell Biol 17(2): 117-123 - DOI - PubMed - Mutations
- Passoja, K., K. Rautavuoma, L. Ala-Kokko, T. Kosonen and K. I. Kivirikko (1998). "Cloning and characterization of a third human lysyl hydroxylase isoform." Proc Natl Acad Sci U S A 95(18): 10482-10486 - DOI - PubMed - Mutations
- Pirskanen, A., A. M. Kaimio, R. Myllyla and K. I. Kivirikko (1996). "Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity." J Biol Chem 271(16): 9398-9402 - DOI - PubMed - Mutations
- Pousi, B., T. Hautala, J. C. Hyland, J. Schroter, B. Eckes, K. I. Kivirikko and R. Myllyla (1998). "A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene." Hum Mutat 11(1): 55-61 - DOI - PubMed - Mutations
- Pousi, B., J. Heikkinen, J. Schroter, M. Pope and R. Myllyla (2000). "A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI." Mutat Res 432(1-2): 33-37 - DOI - PubMed - Mutations
- Rohrbach, M., A. Vandersteen, U. Yis, G. Serdaroglu, E. Ataman, M. Chopra, S. Garcia, K. Jones, A. Kariminejad, M. Kraenzlin, C. Marcelis, M. Baumgartner and C. Giunta (2011). "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet J Rare Dis 6: 46 - DOI - PubMed - Mutations
- Royce, P. M. and M. J. Barnes (1985). "Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen." Biochem J 230(2): 475-480 - DOI - PubMed - Mutations
- Salavoura, K., M. Valari, A. Kolialexi, A. Mavrou and S. Kitsiou (2006). "A case of Ehlers Danlos syndrome type VI." Genet Couns 17(3): 291-294 - DOI - PubMed - Mutations
- Salo, A. M., H. Cox, P. Farndon, C. Moss, H. Grindulis, M. Risteli, S. P. Robins and R. Myllyla (2008). "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene." Am J Hum Genet 83(4): 495-503 - DOI - PubMed - Mutations
- Scietti, L., A. Chiapparino, F. De Giorgi, M. Fumagalli, L. Khoriauli, S. Nergadze, S. Basu, V. Olieric, L. Cucca, B. Banushi, A. Profumo, E. Giulotto, P. Gissen and F. Forneris (2018). "Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3." Nat Commun 9(1): 3163 - DOI - PubMed - Mutations
- Tosun, A., S. Kurtgoz, S. Dursun and G. Bozkurt (2014). "A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation." Pediatr Neurol 51(4): 566-569. - DOI - PubMed - Mutations
- Vahidnezhad, H., L. Youssefian, et al. (2018). "Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency." Matrix Biol. - DOI - PubMed - Mutations
- van der Slot, A. J., A. M. Zuurmond, A. F. Bardoel, C. Wijmenga, H. E. Pruijs, D. O. Sillence, J. Brinckmann, D. J. Abraham, C. M. Black, N. Verzijl, J. DeGroot, R. Hanemaaijer, J. M. TeKoppele, T. W. Huizinga and R. A. Bank (2003). "Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis." J Biol Chem 278(42): 40967-40972 - DOI - PubMed - Mutations
- Walker, L. C., J. C. Marini, D. K. Grange, J. Filie and H. N. Yeowell (1999). "A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene." Mol Genet Metab 67(1): 74-82 - DOI - PubMed - Mutations
- Walker, L. C., M. A. Overstreet, A. Siddiqui, A. De Paepe, G. Ceylaner, F. Malfait, S. Symoens, P. Atsawasuwan, M. Yamauchi, S. Ceylaner, R. A. Bank and H. N. Yeowell (2005). "A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient." J Invest Dermatol 124(5): 914-918 - DOI - PubMed - Mutations
- Wang, C., H. Luosujarvi, J. Heikkinen, M. Risteli, L. Uitto and R. Myllyla (2002). "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro." Matrix Biol 21(7): 559-566 - DOI - PubMed - Mutations
- Wang, C., M. Risteli, J. Heikkinen, A. K. Hussa, L. Uitto and R. Myllyla (2002). "Identification of amino acids important for the catalytic activity of the collagen glucosyltransferase associated with the multifunctional lysyl hydroxylase 3 (LH3)." J Biol Chem 277(21): 18568-18573 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (1997). "Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene." Proc Assoc Am Physicians 109(4): 383-396 - DOI - PubMed - Mutations
- Yeowell, H. N., L. C. Walker, B. Farmer, J. Heikkinen and R. Myllyla (2000). "Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family." Hum Mutat 16(1): 90 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (2000). "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI." Mol Genet Metab 71(1-2): 212-224 - DOI - PubMed - Mutations
- Yis, U., E. Dirik, C. Chambaz, B. Steinmann and C. Giunta (2008). "Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)." Neuromuscul Disord 18(3): 210-214 - DOI - PubMed - Mutations
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- Lysyl Hydroxylase 1 (human) (gene PLOD1) - Mutations
- Lysyl Hydroxylase 2a/2b (human) (gene PLOD2) - Mutations
- Lysyl Hydroxylase 3 (human) (gene PLOD3) - Mutations
- Lysyl Hydroxylase L230 (mimivirus) (gene L230) - Mutations
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| SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
|---|---|---|---|---|---|---|
| SiMPLOD1-35 | Lysyl Hydroxylase 1 (human) | LH1 ARG319END (PLOD1 c.955C>T) |
no disease phenotype information available Pathogenic |
14364 | Hyland et al., 1992Eyre et al., 2002 Giunta et al., 2005 Steinmann et al., 1995 al-Gazali et al., 1997 Royce et al. 1985 |
View |
| SiMPLOD1-66 | Lysyl Hydroxylase 1 (human) | LH1 ASP135THRFS (PLOD1 c.402delA) |
no disease phenotype information available Pathogenic |
288527 | View | |
| SiMPLOD1-67 | Lysyl Hydroxylase 1 (human) | LH1 ASP135VALFS (PLOD1 c.404_423del20) |
no disease phenotype information available Pathogenic |
264119 | View | |
| SiMPLOD1-86 | Lysyl Hydroxylase 1 (human) | LH1 GLN195END (PLOD1 c.583C>T) |
no disease phenotype information available Pathogenic |
450403 | View | |
| SiMPLOD1-204 | Lysyl Hydroxylase 1 (human) | LH1 TRP521END (PLOD1 c.1562G>A) |
Neonatal hypotonia Pathogenic |
374077 | View | |
| SiMPLOD1-13 | Lysyl Hydroxylase 1 (human) | LH1 ALA667THR (PLOD1 c.1999G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-20 | Lysyl Hydroxylase 1 (human) | LH1 ARG111GLYFS (PLOD1 c.327delG) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
284903 | View | |
| SiMPLOD1-51 | Lysyl Hydroxylase 1 (human) | LH1 ARG670END (PLOD1 c.2008C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14373 | Yeowell et al., 2000 |
View |
| SiMPLOD1-72 | Lysyl Hydroxylase 1 (human) | LH1 delta368-372 (PLOD1 c.1103_1117del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-83 | Lysyl Hydroxylase 1 (human) | LH1 GLN049END (PLOD1 c.145C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-84 | Lysyl Hydroxylase 1 (human) | LH1 GLN056END (PLOD1 c.166C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
520105 | View | |
| SiMPLOD1-87 | Lysyl Hydroxylase 1 (human) | LH1 GLN327END (PLOD1 c.979C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
561087 | Yeowell et al., 2000 |
View |
| SiMPLOD1-88 | Lysyl Hydroxylase 1 (human) | LH1 GLN345END (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-97 | Lysyl Hydroxylase 1 (human) | LH1 GLU532DEL (PLOD1 c.1594_1596del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14367 | Ha et al., 1994 |
View |
| SiMPLOD1-134 | Lysyl Hydroxylase 1 (human) | LH1 dupl326-585;TYR455THRFS (PLOD1 c.975+975_1755+?dup+c.1362delC) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-207 | Lysyl Hydroxylase 1 (human) | LH1 TRP612CYS (PLOD1 c.1836G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14372 | Brinckmann et al., 1998 |
View |
| SiMPLOD1-209 | Lysyl Hydroxylase 1 (human) | LH1 TYR511END (PLOD1 c.1533C>G) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
14370 | Walker et al., 1999 Yeowell et al., 2000 Yeowell et al., 1997 Pousi et al., 2000 |
View |
| SiMPLOD1-317 | Lysyl Hydroxylase 1 (human) | LH1 ASN052GLNFS (PLOD1 c.153_154insC) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Heikkinen et al., 1999 |
View |
| SiMPLOD1-319 | Lysyl Hydroxylase 1 (human) | LH1 delta282-325 (PLOD1 c.975+2_975+3insTT) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Pajunen et al., 1998 |
View |
| SiMPLOD1-320 | Lysyl Hydroxylase 1 (human) | LH1 delta367-443 (PLOD1 c.(1097+1_1098-1)_(1328+1_1329-1)del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | View | |
| SiMPLOD1-321 | Lysyl Hydroxylase 1 (human) | LH1 ASP367PROFS (PLOD1 c.1120_1756-1553del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2009 |
View |
| SiMPLOD1-324 | Lysyl Hydroxylase 1 (human) | LH1 TYR455THRFS (PLOD1 c.1362delC) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2005 Salavoura et al., 2006 |
View |
| SiMPLOD1-325 | Lysyl Hydroxylase 1 (human) | LH1 delta491-550 (PLOD1 c.(1470+1_1471-1)_(1650+1_1651-1)del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | View | |
| SiMPLOD1-326 | Lysyl Hydroxylase 1 (human) | LH1 delta551-585 (PLOD1 c.1651-2A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 Pousi et al., 1998 |
View |
| SiMPLOD1-327 | Lysyl Hydroxylase 1 (human) | LH1 delta586-634 (PLOD1 c.1756-?_1902+?del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Pousi et al., 1998 Hilderink et al., 1995 Krieg et al., 1979 Ihme et al., 1984 |
View |
| SiMPLOD1-328 | Lysyl Hydroxylase 1 (human) | LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (PLOD1 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G]) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Heikkinen et al., 1997 |
View |
| SiMPLOD1-329 | Lysyl Hydroxylase 1 (human) | LH1 PRO622ARGFS (PLOD1 c.1863_1864dup) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Tosun et al., 2014 |
View |
| SiMPLOD1-330 | Lysyl Hydroxylase 1 (human) | LH1 TYR675END (PLOD1 c.2025C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Abdalla et al., 2015 |
View |
| SiMPLOD1-337 | Lysyl Hydroxylase 1 (human) | LH1 ILE599FS (PLOD1 c.1795delA) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
561086 | View | |
| SiMPLOD1-1183 | Lysyl Hydroxylase 1 (human) | LH1 GLN636END (PLOD1 c.1906C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
659390 | View | |
| SiMPLOD1-1193 | Lysyl Hydroxylase 1 (human) | LH1 GLN339END (PLOD1 c.1015C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
648887 | View | |
| SiMPLOD1-191 | Lysyl Hydroxylase 1 (human) | LH1 THR268THR (PLOD1 c.804C>T) |
no disease phenotype information available Conflicting interpretations of pathogenicity |
264284 | View | |
| SiMPLOD1-200 | Lysyl Hydroxylase 1 (human) | LH1 THR705MET (PLOD1 c.2114C>T) |
no disease phenotype information available Likely pathogenic |
421155 | View | |
| SiMPLOD1-225 | Lysyl Hydroxylase 1 (human) | LH1 VAL643ILE (PLOD1 c.1927G>A) |
no disease phenotype information available Conflicting interpretations of pathogenicity |
263957 | View | |
| SiMPLOD1-914 | Lysyl Hydroxylase 1 (human) | LH1 ARG046CYS (PLOD1 c.136C>T) |
no disease phenotype information available Likely pathogenic |
242450 | View | |
| SiMPLOD1-24 | Lysyl Hydroxylase 1 (human) | LH1 ARG118TRP (PLOD1 c.352C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely pathogenic |
523065 | View | |
| SiMPLOD1-38 | Lysyl Hydroxylase 1 (human) | LH1 ARG394ARG (PLOD1 c.1182G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292292 | View | |
| SiMPLOD1-40 | Lysyl Hydroxylase 1 (human) | LH1 ARG441TRP (PLOD1 c.1321C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
519563 | View | |
| SiMPLOD1-45 | Lysyl Hydroxylase 1 (human) | LH1 ARG499TRP (PLOD1 c.1495C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292304 | View | |
| SiMPLOD1-46 | Lysyl Hydroxylase 1 (human) | LH1 ARG512CYS (PLOD1 c.1534C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
255801 | View | |
| SiMPLOD1-68 | Lysyl Hydroxylase 1 (human) | LH1 ASP179TYR (PLOD1 c.535G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
459822 | View | |
| SiMPLOD1-107 | Lysyl Hydroxylase 1 (human) | LH1 GLY678ARG (PLOD1 c.2032G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
14366 | Ha et al., 1994 Yeowell et al., 2000 Rohrbach et al., 2011 Miller et al., 1979 Dembure et al., 1984 Dembure et al., 1987 |
View |
| SiMPLOD1-113 | Lysyl Hydroxylase 1 (human) | LH1 HIS325HIS (PLOD1 c.975C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
459837 | View | |
| SiMPLOD1-137 | Lysyl Hydroxylase 1 (human) | LH1 ILE606ILE (PLOD1 c.1818C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292342 | View | |
| SiMPLOD1-154 | Lysyl Hydroxylase 1 (human) | LH1 LYS476LYS (PLOD1 c.1428G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292295 | View | |
| SiMPLOD1-174 | Lysyl Hydroxylase 1 (human) | LH1 PRO692LEU (PLOD1 c.2075C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
242449 | View | |
| SiMPLOD1-176 | Lysyl Hydroxylase 1 (human) | LH1 SER101SER (PLOD1 c.303C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
440168 | View | |
| SiMPLOD1-203 | Lysyl Hydroxylase 1 (human) | LH1 TRP446GLY (PLOD1 1336T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
NA | Walker et al., 2005 Yis et al., 2008 |
View |
| SiMPLOD1-925 | Lysyl Hydroxylase 1 (human) | LH1 GLY341GLY (PLOD1 c.1023C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
576772 | View | |
| SiMPLOD1-29 | Lysyl Hydroxylase 1 (human) | LH1 ARG205HIS (PLOD1 c.614G>A) |
no disease phenotype information available Uncertain significance |
292287 | View | |
| SiMPLOD1-39 | Lysyl Hydroxylase 1 (human) | LH1 ARG410GLN (PLOD1 c.1229G>A) |
no disease phenotype information available Uncertain significance |
423152 | View | |
| SiMPLOD1-49 | Lysyl Hydroxylase 1 (human) | LH1 ARG634ARG (PLOD1 c.1902G>A) |
no disease phenotype information available Uncertain significance |
493021 | View | |
| SiMPLOD1-59 | Lysyl Hydroxylase 1 (human) | LH1 ASN391SER (PLOD1 c.1172A>G) |
no disease phenotype information available Uncertain significance |
292291 | View | |
| SiMPLOD1-89 | Lysyl Hydroxylase 1 (human) | LH1 GLU037LYS (PLOD1 c.109G>A) |
no disease phenotype information available Uncertain significance |
459803 | View | |
| SiMPLOD1-94 | Lysyl Hydroxylase 1 (human) | LH1 GLU216ASP (PLOD1 c.648G>T) |
no disease phenotype information available Uncertain significance |
546306 | View | |
| SiMPLOD1-100 | Lysyl Hydroxylase 1 (human) | LH1 GLU594LYS (PLOD1 c.1780G>A) |
no disease phenotype information available Uncertain significance |
430352 | View | |
| SiMPLOD1-206 | Lysyl Hydroxylase 1 (human) | LH1 TRP612END (PLOD1 c.1836G>A) |
no disease phenotype information available Uncertain significance |
NA | Brinckmann et al., 1998 |
View |
| SiMPLOD1-222 | Lysyl Hydroxylase 1 (human) | LH1 VAL445ALA (PLOD1 c.1334T>C) |
no disease phenotype information available Uncertain significance |
429267 | View | |
| SiMPLOD1-753 | Lysyl Hydroxylase 1 (human) | LH1 PRO258LEU (PLOD1 c.773C>T) |
no disease phenotype information available Uncertain significance |
618834 | View | |
| SiMPLOD1-1148 | Lysyl Hydroxylase 1 (human) | LH1 LYS036DELINSPHESERPROHISGLYGLYHISEND (PLOD1 c.84_105dup) |
no disease phenotype information available Uncertain significance |
592020 | View | |
| SiMPLOD1-1204 | Lysyl Hydroxylase 1 (human) | LH1 MET001DELFS (PLOD1 c.-9_2del) |
no disease phenotype information available Uncertain significance |
422689 | View | |
| SiMPLOD1-1 | Lysyl Hydroxylase 1 (human) | LH1 ALA018THR (PLOD1 c.52G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459820 | View | |
| SiMPLOD1-2 | Lysyl Hydroxylase 1 (human) | LH1 ALA072SER (PLOD1 c.214G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520106 | View | |
| SiMPLOD1-5 | Lysyl Hydroxylase 1 (human) | LH1 ALA089SER (PLOD1 c.265G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
264618 | View | |
| SiMPLOD1-8 | Lysyl Hydroxylase 1 (human) | LH1 ALA161THR (PLOD1 c.481G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529345 | View | |
| SiMPLOD1-10 | Lysyl Hydroxylase 1 (human) | LH1 ALA366VAL (PLOD1 c.1097C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459802 | View | |
| SiMPLOD1-14 | Lysyl Hydroxylase 1 (human) | LH1 ALA691VAL (PLOD1 c.2072C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459819 | View | |
| SiMPLOD1-15 | Lysyl Hydroxylase 1 (human) | LH1 ALA721VAL (PLOD1 c.2162C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
373603 | View | |
| SiMPLOD1-16 | Lysyl Hydroxylase 1 (human) | LH1 ARG042CYS (PLOD1 c.124C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459806 | View | |
| SiMPLOD1-18 | Lysyl Hydroxylase 1 (human) | LH1 ARG046HIS (PLOD1 c.137G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
440169 | View | |
| SiMPLOD1-19 | Lysyl Hydroxylase 1 (human) | LH1 ARG079TRP (PLOD1 c.235C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292280 | View | |
| SiMPLOD1-23 | Lysyl Hydroxylase 1 (human) | LH1 ARG118GLN (PLOD1 c.353G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520118 | View | |
| SiMPLOD1-25 | Lysyl Hydroxylase 1 (human) | LH1 ARG193ARG (PLOD1 c.579G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459824 | View | |
| SiMPLOD1-26 | Lysyl Hydroxylase 1 (human) | LH1 ARG193ARG (PLOD1 c.577A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292285 | View | |
| SiMPLOD1-27 | Lysyl Hydroxylase 1 (human) | LH1 ARG193SER (PLOD1 c.579G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520107 | View | |
| SiMPLOD1-28 | Lysyl Hydroxylase 1 (human) | LH1 ARG203HIS (PLOD1 c.608G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529351 | View | |
| SiMPLOD1-30 | Lysyl Hydroxylase 1 (human) | LH1 ARG259HIS (PLOD1 c.776G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459826 | View | |
| SiMPLOD1-31 | Lysyl Hydroxylase 1 (human) | LH1 ARG275HIS (PLOD1 c.824G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459830 | View | |
| SiMPLOD1-33 | Lysyl Hydroxylase 1 (human) | LH1 ARG307GLN (PLOD1 c.920G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459835 | View | |
| SiMPLOD1-34 | Lysyl Hydroxylase 1 (human) | LH1 ARG310GLN (PLOD1 c.929G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459836 | View | |
| SiMPLOD1-36 | Lysyl Hydroxylase 1 (human) | LH1 ARG355TRP (PLOD1 c.1063C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459801 | View | |
| SiMPLOD1-41 | Lysyl Hydroxylase 1 (human) | LH1 ARG442HIS (PLOD1 c.1325G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292293 | View | |
| SiMPLOD1-43 | Lysyl Hydroxylase 1 (human) | LH1 ARG463GLN (PLOD1 c.1388G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292294 | View | |
| SiMPLOD1-44 | Lysyl Hydroxylase 1 (human) | LH1 ARG463TRP (PLOD1 c.1387C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
449874 | View | |
| SiMPLOD1-47 | Lysyl Hydroxylase 1 (human) | LH1 ARG588LEU (PLOD1 c.1763G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529352 | View | |
| SiMPLOD1-50 | Lysyl Hydroxylase 1 (human) | LH1 ARG644CYS (PLOD1 c.1930C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292349 | View | |
| SiMPLOD1-52 | Lysyl Hydroxylase 1 (human) | LH1 ARG684CYS (PLOD1 c.2050C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520101 | View | |
| SiMPLOD1-53 | Lysyl Hydroxylase 1 (human) | LH1 ARG690GLN (PLOD1 c.2069G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292350 | View | |
| SiMPLOD1-54 | Lysyl Hydroxylase 1 (human) | LH1 ARG690VAL (PLOD1 c.2068_2069delCGinsGT) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520113 | View | |
| SiMPLOD1-64 | Lysyl Hydroxylase 1 (human) | LH1 ASN686SER (PLOD1 c.2057A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459818 | View | |
| SiMPLOD1-65 | Lysyl Hydroxylase 1 (human) | LH1 ASP103ASN (PLOD1 c.307G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
432397 | View | |
| SiMPLOD1-71 | Lysyl Hydroxylase 1 (human) | LH1 ASP189_PRO190DEL (PLOD1 c.567_572delCCCGGA) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529342 | View | |
| SiMPLOD1-73 | Lysyl Hydroxylase 1 (human) | LH1 ASP382ALA (PLOD1 c.1145A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459804 | View | |
| SiMPLOD1-74 | Lysyl Hydroxylase 1 (human) | LH1 ASP382GLY (PLOD1 c.1145A>G) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520114 | View | |
| SiMPLOD1-90 | Lysyl Hydroxylase 1 (human) | LH1 GLU062LYS (PLOD1 c.184G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292279 | View | |
| SiMPLOD1-98 | Lysyl Hydroxylase 1 (human) | LH1 GLU563GLU (PLOD1 c.1689G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459814 | View | |
| SiMPLOD1-103 | Lysyl Hydroxylase 1 (human) | LH1 GLY159SER (PLOD1 c.475G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292282 | View | |
| SiMPLOD1-104 | Lysyl Hydroxylase 1 (human) | LH1 GLY281GLU (PLOD1 c.842G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
520122 | View | |
| SiMPLOD1-105 | Lysyl Hydroxylase 1 (human) | LH1 GLY291SER (PLOD1 c.871G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459833 | View | |
| SiMPLOD1-106 | Lysyl Hydroxylase 1 (human) | LH1 GLY545ARG (PLOD1 c.1633G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292305 | View | |
| SiMPLOD1-116 | Lysyl Hydroxylase 1 (human) | LH1 HIS504ARG (PLOD1 c.1511A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529349 | View | |
| SiMPLOD1-117 | Lysyl Hydroxylase 1 (human) | LH1 HIS515TYR (PLOD1 c.1543C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459810 | View | |
| SiMPLOD1-126 | Lysyl Hydroxylase 1 (human) | LH1 HIS706ARG (PLOD1 c.2117A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-130 | Lysyl Hydroxylase 1 (human) | LH1 ILE096PHE (PLOD1 c.286A>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
548516 | View | |
| SiMPLOD1-132 | Lysyl Hydroxylase 1 (human) | LH1 ILE186VAL (PLOD1 c.556A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292284 | View | |
| SiMPLOD1-133 | Lysyl Hydroxylase 1 (human) | LH1 ILE322ASN (PLOD1 c.965T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529350 | View | |
| SiMPLOD1-138 | Lysyl Hydroxylase 1 (human) | LH1 ILE720ILE (PLOD1 c.2160C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292351 | View | |
| SiMPLOD1-143 | Lysyl Hydroxylase 1 (human) | LH1 LEU105GLN (PLOD1 c.314T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529347 | View | |
| SiMPLOD1-145 | Lysyl Hydroxylase 1 (human) | LH1 LEU219PRO (PLOD1 c.656T>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520109 | View | |
| SiMPLOD1-146 | Lysyl Hydroxylase 1 (human) | LH1 LEU569GLN (PLOD1 c.1706T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459815 | View | |
| SiMPLOD1-153 | Lysyl Hydroxylase 1 (human) | LH1 LYS476ARG (PLOD1 c.1427A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
498773 | View | |
| SiMPLOD1-155 | Lysyl Hydroxylase 1 (human) | LH1 LYS646ARG (PLOD1 c.1937A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459817 | View | |
| SiMPLOD1-156 | Lysyl Hydroxylase 1 (human) | LH1 MET654LEU (PLOD1 c.1960A>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
426238 | View | |
| SiMPLOD1-159 | Lysyl Hydroxylase 1 (human) | LH1 PRO190PRO (PLOD1 c.570G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459823 | View | |
| SiMPLOD1-162 | Lysyl Hydroxylase 1 (human) | LH1 PRO406ALA (PLOD1 c.1216C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
520125 | View | |
| SiMPLOD1-163 | Lysyl Hydroxylase 1 (human) | LH1 PRO406SER (PLOD1 c.1216C>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
NA | View | |
| SiMPLOD1-168 | Lysyl Hydroxylase 1 (human) | LH1 PRO553LEU (PLOD1 c.1658C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529353 | View | |
| SiMPLOD1-169 | Lysyl Hydroxylase 1 (human) | LH1 PRO597LEU (PLOD1 c.1790C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292341 | View | |
| SiMPLOD1-172 | Lysyl Hydroxylase 1 (human) | LH1 PRO597SER (PLOD1 c.1789C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529348 | View | |
| SiMPLOD1-173 | Lysyl Hydroxylase 1 (human) | LH1 PRO622LEU (PLOD1 c.1865C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520108 | View | |
| SiMPLOD1-177 | Lysyl Hydroxylase 1 (human) | LH1 SER108LEU (PLOD1 c.323C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520119 | View | |
| SiMPLOD1-178 | Lysyl Hydroxylase 1 (human) | LH1 SER178ARG (PLOD1 c.534C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459821 | View | |
| SiMPLOD1-183 | Lysyl Hydroxylase 1 (human) | LH1 SER342SER (PLOD1 c.1026C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459800 | View | |
| SiMPLOD1-186 | Lysyl Hydroxylase 1 (human) | LH1 THR032MET (PLOD1 c.95C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
264381 | View | |
| SiMPLOD1-189 | Lysyl Hydroxylase 1 (human) | LH1 THR262ILE (PLOD1 c.785C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459828 | View | |
| SiMPLOD1-193 | Lysyl Hydroxylase 1 (human) | LH1 THR287THR (PLOD1 c.861G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459831 | View | |
| SiMPLOD1-194 | Lysyl Hydroxylase 1 (human) | LH1 THR298MET (PLOD1 c.893C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529344 | View | |
| SiMPLOD1-197 | Lysyl Hydroxylase 1 (human) | LH1 THR550THR (PLOD1 c.1650G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459812 | View | |
| SiMPLOD1-198 | Lysyl Hydroxylase 1 (human) | LH1 THR562MET (PLOD1 c.1685C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
264138 | View | |
| SiMPLOD1-199 | Lysyl Hydroxylase 1 (human) | LH1 THR562THR (PLOD1 c.1686G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292311 | View | |
| SiMPLOD1-201 | Lysyl Hydroxylase 1 (human) | LH1 TRP419ARG (PLOD1 c.1255T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
440167 | View | |
| SiMPLOD1-202 | Lysyl Hydroxylase 1 (human) | LH1 TRP419LEUFS (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-205 | Lysyl Hydroxylase 1 (human) | LH1 TRP557SER (PLOD1 c.1670G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520112 | View | |
| SiMPLOD1-208 | Lysyl Hydroxylase 1 (human) | LH1 TYR142END (PLOD1 426T>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-210 | Lysyl Hydroxylase 1 (human) | LH1 TYR556CYS (PLOD1 c.1667A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
451743 | View | |
| SiMPLOD1-211 | Lysyl Hydroxylase 1 (human) | LH1 VAL030ALA (PLOD1 c.89T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292277 | View | |
| SiMPLOD1-212 | Lysyl Hydroxylase 1 (human) | LH1 VAL078PHE (PLOD1 c.232G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529341 | View | |
| SiMPLOD1-213 | Lysyl Hydroxylase 1 (human) | LH1 VAL218MET (PLOD1 c.652G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520121 | View | |
| SiMPLOD1-216 | Lysyl Hydroxylase 1 (human) | LH1 VAL238PHE (PLOD1 c.712G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529346 | View | |
| SiMPLOD1-217 | Lysyl Hydroxylase 1 (human) | LH1 VAL269MET (PLOD1 c.805G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459829 | View | |
| SiMPLOD1-318 | Lysyl Hydroxylase 1 (human) | LH1 GLN208END (PLOD1 c.622C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
631562 | Abdalla et al., 2015 |
View |
| SiMPLOD1-881 | Lysyl Hydroxylase 1 (human) | LH1 ARG205CYS (PLOD1 c.613C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
634546 | View | |
| SiMPLOD1-919 | Lysyl Hydroxylase 1 (human) | LH1 THR287MET (PLOD1 c.860C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
583256 | View | |
| SiMPLOD1-920 | Lysyl Hydroxylase 1 (human) | LH1 ARG370TRP (PLOD1 c.1108C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
582894 | View | |
| SiMPLOD1-921 | Lysyl Hydroxylase 1 (human) | LH1 GLY365GLY (PLOD1 c.1095C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
580535 | View | |
| SiMPLOD1-922 | Lysyl Hydroxylase 1 (human) | LH1 PRO406SER (PLOD1 c.1216C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
580095 | View | |
| SiMPLOD1-923 | Lysyl Hydroxylase 1 (human) | LH1 LYS316THR (PLOD1 c.947A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
579966 | View | |
| SiMPLOD1-924 | Lysyl Hydroxylase 1 (human) | LH1 LEU311PHE (PLOD1 c.931C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
579875 | View | |
| SiMPLOD1-926 | Lysyl Hydroxylase 1 (human) | LH1 ARG373CYS (PLOD1 c.1117C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
576427 | View | |
| SiMPLOD1-927 | Lysyl Hydroxylase 1 (human) | LH1 PHE126VAL (PLOD1 c.376T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
575732 | View | |
| SiMPLOD1-928 | Lysyl Hydroxylase 1 (human) | LH1 ASN595LYS (PLOD1 c.1785C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
575115 | View | |
| SiMPLOD1-929 | Lysyl Hydroxylase 1 (human) | LH1 PRO190LEU (PLOD1 c.569C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
571946 | View | |
| SiMPLOD1-930 | Lysyl Hydroxylase 1 (human) | LH1 PRO622SER (PLOD1 c.1864C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
568946 | View | |
| SiMPLOD1-931 | Lysyl Hydroxylase 1 (human) | LH1 HIS317ASN (PLOD1 c.949C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
568260 | View | |
| SiMPLOD1-932 | Lysyl Hydroxylase 1 (human) | LH1 THR624MET (PLOD1 c.1871C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
566540 | View | |
| SiMPLOD1-933 | Lysyl Hydroxylase 1 (human) | LH1 TYR631CYS (PLOD1 c.1892A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
565812 | View | |
| SiMPLOD1-1174 | Lysyl Hydroxylase 1 (human) | LH1 ARG259CYS (PLOD1 c.775C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
626255 | View | |
| SiMPLOD1-1176 | Lysyl Hydroxylase 1 (human) | LH1 SER176GLY (PLOD1 c.526A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
665803 | View | |
| SiMPLOD1-1177 | Lysyl Hydroxylase 1 (human) | LH1 ILE560VAL (PLOD1 c.1678A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
665409 | View | |
| SiMPLOD1-1178 | Lysyl Hydroxylase 1 (human) | LH1 ARG394TRP (PLOD1 c.1180C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
664014 | View | |
| SiMPLOD1-1179 | Lysyl Hydroxylase 1 (human) | LH1 MET494ILE (PLOD1 c.1482G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
663175 | View | |
| SiMPLOD1-1180 | Lysyl Hydroxylase 1 (human) | LH1 VAL725ILE (PLOD1 c.2173G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659772 | View | |
| SiMPLOD1-1181 | Lysyl Hydroxylase 1 (human) | LH1 SER416PRO (PLOD1 c.1246T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659462 | View | |
| SiMPLOD1-1182 | Lysyl Hydroxylase 1 (human) | LH1 GLU039LYS (PLOD1 c.115G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659426 | View | |
| SiMPLOD1-1184 | Lysyl Hydroxylase 1 (human) | LH1 MET699VAL (PLOD1 c.2095A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
658162 | View | |
| SiMPLOD1-1185 | Lysyl Hydroxylase 1 (human) | LH1 ARG681TRP (PLOD1 c.2041C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657874 | View | |
| SiMPLOD1-1186 | Lysyl Hydroxylase 1 (human) | LH1 PHE106DEL (PLOD1 c.315_317del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657826 | View | |
| SiMPLOD1-1187 | Lysyl Hydroxylase 1 (human) | LH1 ARG136HIS (PLOD1 c.407G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657436 | View | |
| SiMPLOD1-1188 | Lysyl Hydroxylase 1 (human) | LH1 ARG430CYS (PLOD1 c.1288C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
655595 | View | |
| SiMPLOD1-1189 | Lysyl Hydroxylase 1 (human) | LH1 LEU081VAL (PLOD1 c.241C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
653085 | View | |
| SiMPLOD1-1190 | Lysyl Hydroxylase 1 (human) | LH1 GLU272LYS (PLOD1 c.814G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
652711 | View | |
| SiMPLOD1-1191 | Lysyl Hydroxylase 1 (human) | LH1 THR550MET (PLOD1 c.1649C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
651980 | View | |
| SiMPLOD1-1192 | Lysyl Hydroxylase 1 (human) | LH1 HIS225ARG (PLOD1 c.674A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
651576 | View | |
| SiMPLOD1-1194 | Lysyl Hydroxylase 1 (human) | LH1 ILE280THR (PLOD1 c.839T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647692 | View | |
| SiMPLOD1-1195 | Lysyl Hydroxylase 1 (human) | LH1 ARG610TRP (PLOD1 c.1828C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647685 | View | |
| SiMPLOD1-1196 | Lysyl Hydroxylase 1 (human) | LH1 HIS700ARG (PLOD1 c.2099A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647407 | View | |
| SiMPLOD1-1197 | Lysyl Hydroxylase 1 (human) | LH1 ASP234GLU (PLOD1 c.702C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647304 | View | |
| SiMPLOD1-1198 | Lysyl Hydroxylase 1 (human) | LH1 TYR450CYS (PLOD1 c.1349A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
645631 | View | |
| SiMPLOD1-1199 | Lysyl Hydroxylase 1 (human) | LH1 GLU170LYS (PLOD1 c.508G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644789 | View | |
| SiMPLOD1-1200 | Lysyl Hydroxylase 1 (human) | LH1 ARG690END (PLOD1 c.2068C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644297 | View | |
| SiMPLOD1-1201 | Lysyl Hydroxylase 1 (human) | LH1 VAL292MET (PLOD1 c.874G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644206 | View | |
| SiMPLOD1-1202 | Lysyl Hydroxylase 1 (human) | LH1 VAL445GLY (PLOD1 c.1334T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
640601 | View | |
| SiMPLOD1-1203 | Lysyl Hydroxylase 1 (human) | LH1 ARG644FS (PLOD1 c.1930del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
631563 | View | |
| SiMPLOD1-3 | Lysyl Hydroxylase 1 (human) | LH1 ALA084THR (PLOD1 c.250G>A) |
no disease phenotype information available Benign/Likely benign |
263938 | View | |
| SiMPLOD1-93 | Lysyl Hydroxylase 1 (human) | LH1 GLU170VAL (PLOD1 c.509A>T) |
no disease phenotype information available Benign/Likely benign |
514191 | View | |
| SiMPLOD1-102 | Lysyl Hydroxylase 1 (human) | LH1 GLY059GLY (PLOD1 c.177C>T) |
no disease phenotype information available Benign/Likely benign |
263887 | View | |
| SiMPLOD1-128 | Lysyl Hydroxylase 1 (human) | LH1 HIS708HIS (PLOD1 c.2124T>C) |
no disease phenotype information available Benign/Likely benign |
263886 | View | |
| SiMPLOD1-148 | Lysyl Hydroxylase 1 (human) | LH1 LEU711LEU (PLOD1 c.2133C>G) |
no disease phenotype information available Benign/Likely benign |
263889 | View | |
| SiMPLOD1-150 | Lysyl Hydroxylase 1 (human) | LH1 LYS185ASN (PLOD1 c.555G>T) |
no disease phenotype information available Benign/Likely benign |
263963 | View | |
| SiMPLOD1-196 | Lysyl Hydroxylase 1 (human) | LH1 THR388THR (PLOD1 c.1164C>T) |
no disease phenotype information available Benign/Likely benign |
390574 | View | |
| SiMPLOD1-220 | Lysyl Hydroxylase 1 (human) | LH1 VAL381MET (PLOD1 c.1141G>A) |
no disease phenotype information available Benign/Likely benign |
263885 | View | |
| SiMPLOD1-223 | Lysyl Hydroxylase 1 (human) | LH1 VAL596VAL (PLOD1 c.1788G>T) |
no disease phenotype information available Benign/Likely benign |
263892 | View | |
| SiMPLOD1-12 | Lysyl Hydroxylase 1 (human) | LH1 ALA544ALA (PLOD1 c.1632A>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign/Likely benign |
255802 | View | |
| SiMPLOD1-85 | Lysyl Hydroxylase 1 (human) | LH1 GLN180GLN (PLOD1 c.540G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
292283 | View | |
| SiMPLOD1-144 | Lysyl Hydroxylase 1 (human) | LH1 LEU188PHE (PLOD1 c.564G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
440166 | View | |
| SiMPLOD1-152 | Lysyl Hydroxylase 1 (human) | LH1 LYS185ASN (PLOD1 c.555G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
NA | View | |
| SiMPLOD1-11 | Lysyl Hydroxylase 1 (human) | LH1 ALA383ALA (PLOD1 c.1149T>C) |
no disease phenotype information available Likely benign |
392533 | View | |
| SiMPLOD1-91 | Lysyl Hydroxylase 1 (human) | LH1 GLU092GLU (PLOD1 c.276G>A) |
no disease phenotype information available Likely benign |
509164 | View | |
| SiMPLOD1-111 | Lysyl Hydroxylase 1 (human) | LH1 HIS312HIS (PLOD1 c.936C>T) |
no disease phenotype information available Likely benign |
263947 | View | |
| SiMPLOD1-135 | Lysyl Hydroxylase 1 (human) | LH1 ILE487ILE (PLOD1 c.1461C>T) |
no disease phenotype information available Likely benign |
513362 | View | |
| SiMPLOD1-147 | Lysyl Hydroxylase 1 (human) | LH1 LEU569LEU (PLOD1 c.1707G>A) |
no disease phenotype information available Likely benign |
459816 | View | |
| SiMPLOD1-165 | Lysyl Hydroxylase 1 (human) | LH1 PRO406PRO (PLOD1 c.1218G>A) |
no disease phenotype information available Likely benign |
389629 | View | |
| SiMPLOD1-195 | Lysyl Hydroxylase 1 (human) | LH1 THR376THR (PLOD1 c.1128C>T) |
no disease phenotype information available Likely benign |
513128 | View | |
| SiMPLOD1-812 | Lysyl Hydroxylase 1 (human) | LH1 ILE294ILE (PLOD1 c.882C>T) |
no disease phenotype information available Likely benign |
618331 | View | |
| SiMPLOD1-9 | Lysyl Hydroxylase 1 (human) | LH1 ALA361ALA (PLOD1 c.1083C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
520120 | View | |
| SiMPLOD1-21 | Lysyl Hydroxylase 1 (human) | LH1 ARG118ARG (PLOD1 c.354G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520116 | View | |
| SiMPLOD1-37 | Lysyl Hydroxylase 1 (human) | LH1 ARG370ARG (PLOD1 c.1110G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520111 | View | |
| SiMPLOD1-75 | Lysyl Hydroxylase 1 (human) | LH1 ASP384ASP (PLOD1 c.1152C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520124 | View | |
| SiMPLOD1-76 | Lysyl Hydroxylase 1 (human) | LH1 ASP433ASP (PLOD1 c.1299C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
264283 | View | |
| SiMPLOD1-78 | Lysyl Hydroxylase 1 (human) | LH1 ASP491ASP (PLOD1 c.1473T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459808 | View | |
| SiMPLOD1-92 | Lysyl Hydroxylase 1 (human) | LH1 GLU112GLU (PLOD1 c.336G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520100 | View | |
| SiMPLOD1-96 | Lysyl Hydroxylase 1 (human) | LH1 GLU528LYS (PLOD1 c.1582G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459811 | View | |
| SiMPLOD1-112 | Lysyl Hydroxylase 1 (human) | LH1 HIS317HIS (PLOD1 c.951C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529361 | View | |
| SiMPLOD1-120 | Lysyl Hydroxylase 1 (human) | LH1 HIS536HIS (PLOD1 c.1608C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529362 | View | |
| SiMPLOD1-136 | Lysyl Hydroxylase 1 (human) | LH1 ILE606ILE (PLOD1 c.1818C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529364 | View | |
| SiMPLOD1-140 | Lysyl Hydroxylase 1 (human) | LH1 LEU010LEU (PLOD1 c.30G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
264292 | View | |
| SiMPLOD1-141 | Lysyl Hydroxylase 1 (human) | LH1 LEU081LEU (PLOD1 c.243G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529360 | View | |
| SiMPLOD1-142 | Lysyl Hydroxylase 1 (human) | LH1 LEU085PRO (PLOD1 c.254T>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-149 | Lysyl Hydroxylase 1 (human) | LH1 LYS045LYS (PLOD1 c.135G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529356 | View | |
| SiMPLOD1-158 | Lysyl Hydroxylase 1 (human) | LH1 PHE263PHE (PLOD1 c.789C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529359 | View | |
| SiMPLOD1-160 | Lysyl Hydroxylase 1 (human) | LH1 PRO258PRO (PLOD1 c.774G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459825 | View | |
| SiMPLOD1-161 | Lysyl Hydroxylase 1 (human) | LH1 PRO299PRO (PLOD1 c.897G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459834 | View | |
| SiMPLOD1-166 | Lysyl Hydroxylase 1 (human) | LH1 PRO527PRO (PLOD1 c.1581C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529357 | View | |
| SiMPLOD1-170 | Lysyl Hydroxylase 1 (human) | LH1 PRO597PRO (PLOD1 c.1791G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520115 | View | |
| SiMPLOD1-175 | Lysyl Hydroxylase 1 (human) | LH1 PRO727PRO (PLOD1 c.2181C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
264177 | View | |
| SiMPLOD1-180 | Lysyl Hydroxylase 1 (human) | LH1 SER178SER (PLOD1 c.534C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520104 | View | |
| SiMPLOD1-181 | Lysyl Hydroxylase 1 (human) | LH1 SER302TYR (PLOD1 c.905C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529363 | View | |
| SiMPLOD1-184 | Lysyl Hydroxylase 1 (human) | LH1 SER380SER (PLOD1 c.1140C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
264103 | View | |
| SiMPLOD1-185 | Lysyl Hydroxylase 1 (human) | LH1 SER510SER (PLOD1 c.1530C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459809 | View | |
| SiMPLOD1-187 | Lysyl Hydroxylase 1 (human) | LH1 THR038THR (PLOD1 c.114C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529358 | View | |
| SiMPLOD1-188 | Lysyl Hydroxylase 1 (human) | LH1 THR038THR (PLOD1 c.114C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
NA | View | |
| SiMPLOD1-215 | Lysyl Hydroxylase 1 (human) | LH1 VAL226VAL (PLOD1 c.678G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529355 | View | |
| SiMPLOD1-219 | Lysyl Hydroxylase 1 (human) | LH1 VAL290VAL (PLOD1 c.870C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459832 | View | |
| SiMPLOD1-221 | Lysyl Hydroxylase 1 (human) | LH1 VAL403VAL (PLOD1 c.1209C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520126 | View | |
| SiMPLOD1-226 | Lysyl Hydroxylase 1 (human) | LH1 VAL725VAL (PLOD1 c.2175C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520110 | View | |
| SiMPLOD1-4 | Lysyl Hydroxylase 1 (human) | LH1 ALA084PRO (PLOD1 c.250G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-17 | Lysyl Hydroxylase 1 (human) | LH1 ARG042SER (PLOD1 c.124C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-22 | Lysyl Hydroxylase 1 (human) | LH1 ARG118ARG (PLOD1 c.354G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-32 | Lysyl Hydroxylase 1 (human) | LH1 ARG275LEU (PLOD1 c.824G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-42 | Lysyl Hydroxylase 1 (human) | LH1 ARG442LEU (PLOD1 c.1325G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-48 | Lysyl Hydroxylase 1 (human) | LH1 ARG588HIS (PLOD1 c.1763G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-69 | Lysyl Hydroxylase 1 (human) | LH1 ASP179ASN (PLOD1 c.535G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-70 | Lysyl Hydroxylase 1 (human) | LH1 ASP179HIS (PLOD1 c.535G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-95 | Lysyl Hydroxylase 1 (human) | LH1 GLU216GLU (PLOD1 c.648G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-99 | Lysyl Hydroxylase 1 (human) | LH1 GLU563ASP (PLOD1 c.1689G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-101 | Lysyl Hydroxylase 1 (human) | LH1 GLU594END (PLOD1 c.1780G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-131 | Lysyl Hydroxylase 1 (human) | LH1 ILE096VAL (PLOD1 c.286A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-139 | Lysyl Hydroxylase 1 (human) | LH1 ILE720ILE (PLOD1 c.2160C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-151 | Lysyl Hydroxylase 1 (human) | LH1 LYS185LYS (PLOD1 c.555G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-167 | Lysyl Hydroxylase 1 (human) | LH1 PRO527PRO (PLOD1 c.1581C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-171 | Lysyl Hydroxylase 1 (human) | LH1 PRO597PRO (PLOD1 c.1791G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-179 | Lysyl Hydroxylase 1 (human) | LH1 SER178ARG (PLOD1 c.534C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-182 | Lysyl Hydroxylase 1 (human) | LH1 SER302PHE (PLOD1 c.905C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-214 | Lysyl Hydroxylase 1 (human) | LH1 VAL218LEU (PLOD1 c.652G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-224 | Lysyl Hydroxylase 1 (human) | LH1 VAL596VAL (PLOD1 c.1788G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-322 | Lysyl Hydroxylase 1 (human) | LH1 TYR434TYR (PLOD1 c.1302C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-323 | Lysyl Hydroxylase 1 (human) | LH1 TYR434END (PLOD1 c.1302C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-339 | Lysyl Hydroxylase 1 (human) | LH1 GLY242GLY (PLOD1 c.726C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-387 | Lysyl Hydroxylase 1 (human) | LH1 VAL642VAL (PLOD1 c.1926C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-413 | Lysyl Hydroxylase 1 (human) | LH1 ARG430HIS (PLOD1 c.1289G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-630 | Lysyl Hydroxylase 1 (human) | LH1 VAL435MET (PLOD1 c.1303G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-714 | Lysyl Hydroxylase 1 (human) | LH1 PRO286SER (PLOD1 c.856C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-715 | Lysyl Hydroxylase 1 (human) | LH1 GLY040END (PLOD1 c.118G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-716 | Lysyl Hydroxylase 1 (human) | LH1 GLY040ARG (PLOD1 c.118G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-717 | Lysyl Hydroxylase 1 (human) | LH1 ARG205LEU (PLOD1 c.614G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-718 | Lysyl Hydroxylase 1 (human) | LH1 ASP189ASP (PLOD1 c.567C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-720 | Lysyl Hydroxylase 1 (human) | LH1 ASN486TYR (PLOD1 c.1456A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-721 | Lysyl Hydroxylase 1 (human) | LH1 CYS267PHE (PLOD1 c.800G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-722 | Lysyl Hydroxylase 1 (human) | LH1 CYS267SER (PLOD1 c.800G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-724 | Lysyl Hydroxylase 1 (human) | LH1 THR713THR (PLOD1 c.2139C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-725 | Lysyl Hydroxylase 1 (human) | LH1 LEU105LEU (PLOD1 c.315G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-726 | Lysyl Hydroxylase 1 (human) | LH1 ARG043CYS (PLOD1 c.127C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-727 | Lysyl Hydroxylase 1 (human) | LH1 ARG043GLY (PLOD1 c.127C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-728 | Lysyl Hydroxylase 1 (human) | LH1 PRO553PRO (PLOD1 c.1659G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-729 | Lysyl Hydroxylase 1 (human) | LH1 GLY412ARG (PLOD1 c.1234G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-730 | Lysyl Hydroxylase 1 (human) | LH1 SER431SER (PLOD1 c.1293C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-731 | Lysyl Hydroxylase 1 (human) | LH1 VAL217ALA (PLOD1 c.650T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-732 | Lysyl Hydroxylase 1 (human) | LH1 SER176SER (PLOD1 c.528C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-733 | Lysyl Hydroxylase 1 (human) | LH1 GLU295LYS (PLOD1 c.883G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-734 | Lysyl Hydroxylase 1 (human) | LH1 ARG703GLN (PLOD1 c.2108G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-735 | Lysyl Hydroxylase 1 (human) | LH1 ARG488GLN (PLOD1 c.1463G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-736 | Lysyl Hydroxylase 1 (human) | LH1 THR246SER (PLOD1 c.736A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-737 | Lysyl Hydroxylase 1 (human) | LH1 ASP726ASN (PLOD1 c.2176G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-738 | Lysyl Hydroxylase 1 (human) | LH1 ALA072ALA (PLOD1 c.216A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-739 | Lysyl Hydroxylase 1 (human) | LH1 ALA621VAL (PLOD1 c.1862C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-740 | Lysyl Hydroxylase 1 (human) | LH1 GLY073GLY (PLOD1 c.219T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-741 | Lysyl Hydroxylase 1 (human) | LH1 ASN595ASN (PLOD1 c.1785C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-742 | Lysyl Hydroxylase 1 (human) | LH1 ARG043ARG (PLOD1 c.129C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-743 | Lysyl Hydroxylase 1 (human) | LH1 ILE535ILE (PLOD1 c.1605C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-744 | Lysyl Hydroxylase 1 (human) | LH1 VAL350ALA (PLOD1 c.1049T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-745 | Lysyl Hydroxylase 1 (human) | LH1 LEU516LEU (PLOD1 c.1546C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-746 | Lysyl Hydroxylase 1 (human) | LH1 ARG488TRP (PLOD1 c.1462C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-747 | Lysyl Hydroxylase 1 (human) | LH1 ILE454VAL (PLOD1 c.1360A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-748 | Lysyl Hydroxylase 1 (human) | LH1 GLN119LYS (PLOD1 c.355C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-750 | Lysyl Hydroxylase 1 (human) | LH1 ALA421SER (PLOD1 c.1261G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-751 | Lysyl Hydroxylase 1 (human) | LH1 TYR378TYR (PLOD1 c.1134C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-752 | Lysyl Hydroxylase 1 (human) | LH1 GLU194ASP (PLOD1 c.582G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-754 | Lysyl Hydroxylase 1 (human) | LH1 SER146SER (PLOD1 c.438C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-755 | Lysyl Hydroxylase 1 (human) | LH1 TYR539HIS (PLOD1 c.1615T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-756 | Lysyl Hydroxylase 1 (human) | LH1 GLY630SER (PLOD1 c.1888G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-757 | Lysyl Hydroxylase 1 (human) | LH1 LEU543LEU (PLOD1 c.1629G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-758 | Lysyl Hydroxylase 1 (human) | LH1 ASN391ASN (PLOD1 c.1173C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-759 | Lysyl Hydroxylase 1 (human) | LH1 ASN391LYS (PLOD1 c.1173C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-760 | Lysyl Hydroxylase 1 (human) | LH1 LEU456VAL (PLOD1 c.1366T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-761 | Lysyl Hydroxylase 1 (human) | LH1 ALA357VAL (PLOD1 c.1070C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-762 | Lysyl Hydroxylase 1 (human) | LH1 ARG442CYS (PLOD1 c.1324C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-763 | Lysyl Hydroxylase 1 (human) | LH1 THR298THR (PLOD1 c.894G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-764 | Lysyl Hydroxylase 1 (human) | LH1 ALA120ALA (PLOD1 c.360C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-765 | Lysyl Hydroxylase 1 (human) | LH1 ARG136CYS (PLOD1 c.406C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-766 | Lysyl Hydroxylase 1 (human) | LH1 GLY074GLY (PLOD1 c.222A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-767 | Lysyl Hydroxylase 1 (human) | LH1 PRO143LEU (PLOD1 c.428C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-768 | Lysyl Hydroxylase 1 (human) | LH1 THR624ARG (PLOD1 c.1871C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-769 | Lysyl Hydroxylase 1 (human) | LH1 PHE304LEU (PLOD1 c.910T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-770 | Lysyl Hydroxylase 1 (human) | LH1 ASN518ASN (PLOD1 c.1554C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-771 | Lysyl Hydroxylase 1 (human) | LH1 ASN518LYS (PLOD1 c.1554C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-772 | Lysyl Hydroxylase 1 (human) | LH1 VAL217VAL (PLOD1 c.651C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-773 | Lysyl Hydroxylase 1 (human) | LH1 GLY672ARG (PLOD1 c.2014G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-774 | Lysyl Hydroxylase 1 (human) | LH1 HIS517ARG (PLOD1 c.1550A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-775 | Lysyl Hydroxylase 1 (human) | LH1 HIS517PRO (PLOD1 c.1550A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-776 | Lysyl Hydroxylase 1 (human) | LH1 ASN526ASN (PLOD1 c.1578C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-777 | Lysyl Hydroxylase 1 (human) | LH1 ASN526LYS (PLOD1 c.1578C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-778 | Lysyl Hydroxylase 1 (human) | LH1 TYR593TYR (PLOD1 c.1779C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-779 | Lysyl Hydroxylase 1 (human) | LH1 GLY279ASP (PLOD1 c.836G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-780 | Lysyl Hydroxylase 1 (human) | LH1 GLY607CYS (PLOD1 c.1819G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-781 | Lysyl Hydroxylase 1 (human) | LH1 GLY607SER (PLOD1 c.1819G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-782 | Lysyl Hydroxylase 1 (human) | LH1 GLY677GLY (PLOD1 c.2031C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-783 | Lysyl Hydroxylase 1 (human) | LH1 ALA228VAL (PLOD1 c.683C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-784 | Lysyl Hydroxylase 1 (human) | LH1 GLU067GLY (PLOD1 c.200A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-785 | Lysyl Hydroxylase 1 (human) | LH1 HIS474TYR (PLOD1 c.1420C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-786 | Lysyl Hydroxylase 1 (human) | LH1 ARG681GLN (PLOD1 c.2042G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-787 | Lysyl Hydroxylase 1 (human) | LH1 ASP282ASP (PLOD1 c.846T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-788 | Lysyl Hydroxylase 1 (human) | LH1 GLU522GLU (PLOD1 c.1566G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-789 | Lysyl Hydroxylase 1 (human) | LH1 TYR377CYS (PLOD1 c.1130A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-790 | Lysyl Hydroxylase 1 (human) | LH1 TYR377SER (PLOD1 c.1130A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-791 | Lysyl Hydroxylase 1 (human) | LH1 ALA057GLU (PLOD1 c.170C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-792 | Lysyl Hydroxylase 1 (human) | LH1 ALA057GLY (PLOD1 c.170C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-793 | Lysyl Hydroxylase 1 (human) | LH1 ALA057VAL (PLOD1 c.170C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-794 | Lysyl Hydroxylase 1 (human) | LH1 PRO406GLN (PLOD1 c.1217C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-795 | Lysyl Hydroxylase 1 (human) | LH1 PRO406LEU (PLOD1 c.1217C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-796 | Lysyl Hydroxylase 1 (human) | LH1 LEU368PRO (PLOD1 c.1103T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-797 | Lysyl Hydroxylase 1 (human) | LH1 ARG150LYS (PLOD1 c.449G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-798 | Lysyl Hydroxylase 1 (human) | LH1 ARG150THR (PLOD1 c.449G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-799 | Lysyl Hydroxylase 1 (human) | LH1 VAL033VAL (PLOD1 c.99G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-800 | Lysyl Hydroxylase 1 (human) | LH1 LYS091ARG (PLOD1 c.272A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-801 | Lysyl Hydroxylase 1 (human) | LH1 THR705THR (PLOD1 c.2115G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-802 | Lysyl Hydroxylase 1 (human) | LH1 ASP519ASN (PLOD1 c.1555G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-803 | Lysyl Hydroxylase 1 (human) | LH1 ARG373SER (PLOD1 c.1117C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-804 | Lysyl Hydroxylase 1 (human) | LH1 ASP103ASP (PLOD1 c.309C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-805 | Lysyl Hydroxylase 1 (human) | LH1 ARG319GLN (PLOD1 c.956G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-806 | Lysyl Hydroxylase 1 (human) | LH1 ARG319LEU (PLOD1 c.956G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-807 | Lysyl Hydroxylase 1 (human) | LH1 GLY591ALA (PLOD1 c.1772G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-808 | Lysyl Hydroxylase 1 (human) | LH1 GLY591ASP (PLOD1 c.1772G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-809 | Lysyl Hydroxylase 1 (human) | LH1 GLY073CYS (PLOD1 c.217G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-810 | Lysyl Hydroxylase 1 (human) | LH1 PRO237LEU (PLOD1 c.710C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-811 | Lysyl Hydroxylase 1 (human) | LH1 ILE666ILE (PLOD1 c.1998C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-813 | Lysyl Hydroxylase 1 (human) | LH1 ASN209ASP (PLOD1 c.625A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-814 | Lysyl Hydroxylase 1 (human) | LH1 LYS316LYS (PLOD1 c.948A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-815 | Lysyl Hydroxylase 1 (human) | LH1 PRO559SER (PLOD1 c.1675C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-816 | Lysyl Hydroxylase 1 (human) | LH1 ARG370GLN (PLOD1 c.1109G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-817 | Lysyl Hydroxylase 1 (human) | LH1 ARG370LEU (PLOD1 c.1109G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-818 | Lysyl Hydroxylase 1 (human) | LH1 ASN243ASN (PLOD1 c.729C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-820 | Lysyl Hydroxylase 1 (human) | LH1 ARG410GLY (PLOD1 c.1228C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-821 | Lysyl Hydroxylase 1 (human) | LH1 ARG410TRP (PLOD1 c.1228C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-822 | Lysyl Hydroxylase 1 (human) | LH1 GLY266ASP (PLOD1 c.797G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-823 | Lysyl Hydroxylase 1 (human) | LH1 LYS278LYS (PLOD1 c.834G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-824 | Lysyl Hydroxylase 1 (human) | LH1 PHE558LEU (PLOD1 c.1672T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-825 | Lysyl Hydroxylase 1 (human) | LH1 HIS602HIS (PLOD1 c.1806C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-826 | Lysyl Hydroxylase 1 (human) | LH1 HIS602GLN (PLOD1 c.1806C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-827 | Lysyl Hydroxylase 1 (human) | LH1 HIS656HIS (PLOD1 c.1968C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-828 | Lysyl Hydroxylase 1 (human) | LH1 LEU520LEU (PLOD1 c.1560C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-829 | Lysyl Hydroxylase 1 (human) | LH1 LYS278ARG (PLOD1 c.833A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-830 | Lysyl Hydroxylase 1 (human) | LH1 LYS278THR (PLOD1 c.833A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-831 | Lysyl Hydroxylase 1 (human) | LH1 VAL671VAL (PLOD1 c.2013C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-832 | Lysyl Hydroxylase 1 (human) | LH1 ASN255SER (PLOD1 c.764A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-833 | Lysyl Hydroxylase 1 (human) | LH1 GLU039GLN (PLOD1 c.115G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-835 | Lysyl Hydroxylase 1 (human) | LH1 THR235ALA (PLOD1 c.703A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-836 | Lysyl Hydroxylase 1 (human) | LH1 ARG203CYS (PLOD1 c.607C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-837 | Lysyl Hydroxylase 1 (human) | LH1 PRO299GLN (PLOD1 c.896C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-838 | Lysyl Hydroxylase 1 (human) | LH1 PRO299LEU (PLOD1 c.896C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-839 | Lysyl Hydroxylase 1 (human) | LH1 TYR685HIS (PLOD1 c.2053T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-840 | Lysyl Hydroxylase 1 (human) | LH1 ASP372GLY (PLOD1 c.1115A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-841 | Lysyl Hydroxylase 1 (human) | LH1 CYS566PHE (PLOD1 c.1697G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-842 | Lysyl Hydroxylase 1 (human) | LH1 CYS566TYR (PLOD1 c.1697G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-843 | Lysyl Hydroxylase 1 (human) | LH1 MET223THR (PLOD1 c.668T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-844 | Lysyl Hydroxylase 1 (human) | LH1 VAL226ALA (PLOD1 c.677T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-845 | Lysyl Hydroxylase 1 (human) | LH1 ASN391ASP (PLOD1 c.1171A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-846 | Lysyl Hydroxylase 1 (human) | LH1 ILE535LEU (PLOD1 c.1603A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-847 | Lysyl Hydroxylase 1 (human) | LH1 ILE535VAL (PLOD1 c.1603A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-848 | Lysyl Hydroxylase 1 (human) | LH1 PRO190ARG (PLOD1 c.569C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-849 | Lysyl Hydroxylase 1 (human) | LH1 LEU471LEU (PLOD1 c.1413C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-850 | Lysyl Hydroxylase 1 (human) | LH1 ALA357ALA (PLOD1 c.1071G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-851 | Lysyl Hydroxylase 1 (human) | LH1 LEU060PRO (PLOD1 c.179T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-852 | Lysyl Hydroxylase 1 (human) | LH1 TYR455CYS (PLOD1 c.1364A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-853 | Lysyl Hydroxylase 1 (human) | LH1 TYR455SER (PLOD1 c.1364A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-854 | Lysyl Hydroxylase 1 (human) | LH1 GLU389LYS (PLOD1 c.1165G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-855 | Lysyl Hydroxylase 1 (human) | LH1 ASP271ASP (PLOD1 c.813C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-856 | Lysyl Hydroxylase 1 (human) | LH1 PHE151ILE (PLOD1 c.451T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-857 | Lysyl Hydroxylase 1 (human) | LH1 PHE051LEU (PLOD1 c.153C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-858 | Lysyl Hydroxylase 1 (human) | LH1 VAL385MET (PLOD1 c.1153G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-860 | Lysyl Hydroxylase 1 (human) | LH1 ARG307ARG (PLOD1 c.919C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-861 | Lysyl Hydroxylase 1 (human) | LH1 ARG307GLY (PLOD1 c.919C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-862 | Lysyl Hydroxylase 1 (human) | LH1 ARG307TRP (PLOD1 c.919C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-863 | Lysyl Hydroxylase 1 (human) | LH1 LEU285LEU (PLOD1 c.853C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-864 | Lysyl Hydroxylase 1 (human) | LH1 THR714ILE (PLOD1 c.2141C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-865 | Lysyl Hydroxylase 1 (human) | LH1 ARG355GLN (PLOD1 c.1064G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-866 | Lysyl Hydroxylase 1 (human) | LH1 VAL570MET (PLOD1 c.1708G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-868 | Lysyl Hydroxylase 1 (human) | LH1 CYS267ARG (PLOD1 c.799T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-869 | Lysyl Hydroxylase 1 (human) | LH1 PRO479PRO (PLOD1 c.1437C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-870 | Lysyl Hydroxylase 1 (human) | LH1 ARG588CYS (PLOD1 c.1762C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-871 | Lysyl Hydroxylase 1 (human) | LH1 ARG588GLY (PLOD1 c.1762C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-872 | Lysyl Hydroxylase 1 (human) | LH1 ALA366THR (PLOD1 c.1096G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-873 | Lysyl Hydroxylase 1 (human) | LH1 ASP201ASN (PLOD1 c.601G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-874 | Lysyl Hydroxylase 1 (human) | LH1 ARG042HIS (PLOD1 c.125G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-875 | Lysyl Hydroxylase 1 (human) | LH1 GLY679VAL (PLOD1 c.2036G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-876 | Lysyl Hydroxylase 1 (human) | LH1 ASP201ASP (PLOD1 c.603C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-877 | Lysyl Hydroxylase 1 (human) | LH1 LYS626LYS (PLOD1 c.1878G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-878 | Lysyl Hydroxylase 1 (human) | LH1 ASN324SER (PLOD1 c.971A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-879 | Lysyl Hydroxylase 1 (human) | LH1 TYR344CYS (PLOD1 c.1031A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-880 | Lysyl Hydroxylase 1 (human) | LH1 TYR344PHE (PLOD1 c.1031A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-882 | Lysyl Hydroxylase 1 (human) | LH1 ARG205GLY (PLOD1 c.613C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-884 | Lysyl Hydroxylase 1 (human) | LH1 ARG718HIS (PLOD1 c.2153G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-885 | Lysyl Hydroxylase 1 (human) | LH1 TYR455TYR (PLOD1 c.1365C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-886 | Lysyl Hydroxylase 1 (human) | LH1 ALA228ALA (PLOD1 c.684G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-887 | Lysyl Hydroxylase 1 (human) | LH1 GLY678GLY (PLOD1 c.2034G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-888 | Lysyl Hydroxylase 1 (human) | LH1 VAL725ILE (PLOD1 c.2173G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-890 | Lysyl Hydroxylase 1 (human) | LH1 VAL725PHE (PLOD1 c.2173G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-891 | Lysyl Hydroxylase 1 (human) | LH1 ARG137ARG (PLOD1 c.411G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-892 | Lysyl Hydroxylase 1 (human) | LH1 ARG137SER (PLOD1 c.411G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-893 | Lysyl Hydroxylase 1 (human) | LH1 GLU326GLU (PLOD1 c.978G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-894 | Lysyl Hydroxylase 1 (human) | LH1 GLU326ASP (PLOD1 c.978G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-895 | Lysyl Hydroxylase 1 (human) | LH1 ARG610GLN (PLOD1 c.1829G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-896 | Lysyl Hydroxylase 1 (human) | LH1 VAL596MET (PLOD1 c.1786G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-897 | Lysyl Hydroxylase 1 (human) | LH1 PRO237PRO (PLOD1 c.711G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-898 | Lysyl Hydroxylase 1 (human) | LH1 THR035ALA (PLOD1 c.103A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-900 | Lysyl Hydroxylase 1 (human) | LH1 ILE158VAL (PLOD1 c.472A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-901 | Lysyl Hydroxylase 1 (human) | LH1 HIS329TYR (PLOD1 c.985C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-902 | Lysyl Hydroxylase 1 (human) | LH1 HIS515HIS (PLOD1 c.1545C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-903 | Lysyl Hydroxylase 1 (human) | LH1 PRO286PRO (PLOD1 c.858C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-904 | Lysyl Hydroxylase 1 (human) | LH1 MET494VAL (PLOD1 c.1480A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-905 | Lysyl Hydroxylase 1 (human) | LH1 ASN065TYR (PLOD1 c.193A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-906 | Lysyl Hydroxylase 1 (human) | LH1 TYR427TYR (PLOD1 c.1281C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-909 | Lysyl Hydroxylase 1 (human) | LH1 MET699VAL (PLOD1 c.2095A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-911 | Lysyl Hydroxylase 1 (human) | LH1 VAL104MET (PLOD1 c.310G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-912 | Lysyl Hydroxylase 1 (human) | LH1 ARG111GLN (PLOD1 c.332G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-913 | Lysyl Hydroxylase 1 (human) | LH1 ARG043HIS (PLOD1 c.128G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-915 | Lysyl Hydroxylase 1 (human) | LH1 SER416LEU (PLOD1 c.1247C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-916 | Lysyl Hydroxylase 1 (human) | LH1 GLY059ALA (PLOD1 c.176G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-917 | Lysyl Hydroxylase 1 (human) | LH1 GLU067ASP (PLOD1 c.201G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-918 | Lysyl Hydroxylase 1 (human) | LH1 ALA089ALA (PLOD1 c.267A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1155 | Lysyl Hydroxylase 1 (human) | LH1 GLN399END (PLOD1 c.1195C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1156 | Lysyl Hydroxylase 1 (human) | LH1 TYR628END (PLOD1 c.1884C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1157 | Lysyl Hydroxylase 1 (human) | LH1 VAL445_TRP446INSEND (PLOD1 c.1338delG) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1158 | Lysyl Hydroxylase 1 (human) | LH1 GLU549END (PLOD1 c.1645G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-6 | Lysyl Hydroxylase 1 (human) | LH1 ALA099THR (PLOD1 c.295G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
196247 | Yip et al., 2011 |
View |
| SiMPLOD1-7 | Lysyl Hydroxylase 1 (human) | LH1 ALA120SER (PLOD1 c.358G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255804 | View | |
| SiMPLOD1-60 | Lysyl Hydroxylase 1 (human) | LH1 ASN402ASN (PLOD1 c.1206C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255799 | Yip et al., 2011 |
View |
| SiMPLOD1-61 | Lysyl Hydroxylase 1 (human) | LH1 ASN402LYS (PLOD1 c.1206C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
NA | Yip et al., 2011 |
View |
| SiMPLOD1-157 | Lysyl Hydroxylase 1 (human) | LH1 PHE098PHE (PLOD1 c.294C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255803 | Yip et al., 2011 |
View |
| SiMPLOD1-190 | Lysyl Hydroxylase 1 (human) | LH1 THR268ALA (PLOD1 c.802A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
440170 | View | |
| SiMPLOD1-55 | Lysyl Hydroxylase 1 (human) | LH1 ARG715ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 |
View |
| SiMPLOD1-56 | Lysyl Hydroxylase 1 (human) | LH1 ARG718ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 |
View |
| SiMPLOD1-57 | Lysyl Hydroxylase 1 (human) | LH1 ASN163GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-58 | Lysyl Hydroxylase 1 (human) | LH1 ASN197GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-62 | Lysyl Hydroxylase 1 (human) | LH1 ASN538GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-63 | Lysyl Hydroxylase 1 (human) | LH1 ASN686SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-77 | Lysyl Hydroxylase 1 (human) | LH1 ASP491ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-79 | Lysyl Hydroxylase 1 (human) | LH1 ASP638ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-80 | Lysyl Hydroxylase 1 (human) | LH1 ASP674ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-81 | Lysyl Hydroxylase 1 (human) | LH1 ASP648ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-82 | Lysyl Hydroxylase 1 (human) | LH1 ASP658ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-108 | Lysyl Hydroxylase 1 (human) | LH1 HIS088SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-109 | Lysyl Hydroxylase 1 (human) | LH1 HIS225SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-110 | Lysyl Hydroxylase 1 (human) | LH1 HIS241SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-115 | Lysyl Hydroxylase 1 (human) | LH1 HIS474SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-119 | Lysyl Hydroxylase 1 (human) | LH1 HIS517SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-121 | Lysyl Hydroxylase 1 (human) | LH1 HIS536SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-122 | Lysyl Hydroxylase 1 (human) | LH1 HIS613SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-123 | Lysyl Hydroxylase 1 (human) | LH1 HIS656SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-124 | Lysyl Hydroxylase 1 (human) | LH1 HIS657SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-125 | Lysyl Hydroxylase 1 (human) | LH1 HIS700SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-127 | Lysyl Hydroxylase 1 (human) | LH1 HIS706SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-129 | Lysyl Hydroxylase 1 (human) | LH1 HIS708SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
Thank you for using SiMPLOD - Created by Fornerislab@UniPV Follow @Fornerislab - Last curated update: 1970-01-01 00:00:00
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