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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
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Explore mutations supported or not supported by publications registered in PubMed

Search results for keyword '21699693':
- annotated PLOD mutations (1)
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- LH1 GLN345END - View
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- registered publications (1)
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- 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
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "21699693".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-88 Lysyl Hydroxylase 1 (human) LH1 GLN345END
(PLOD1)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Rohrbach et al., 2011 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
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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
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SiMPLOD1-202 Lysyl Hydroxylase 1 (human) LH1 TRP419LEUFS
(PLOD1)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Uncertain significance		 NA Rohrbach et al., 2011
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SiMPLOD1-142 Lysyl Hydroxylase 1 (human) LH1 LEU085PRO
(PLOD1 c.254T>C)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Likely benign		 NA Rohrbach et al., 2011
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