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Search results for keyword '9617436':
- annotated PLOD mutations (1)
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- LH1 TRP612END (PLOD1 c.1836G>A) - View
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- registered publications (1)
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- 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
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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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9617436".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
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
SiMPLOD1-206 Lysyl Hydroxylase 1 (human) LH1 TRP612END
(PLOD1 c.1836G>A)		 no disease phenotype information available
Uncertain significance		 NA Brinckmann et al., 1998
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