IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Hemangioma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0018916
Disease:
Hemangioma 		0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0018916
Disease:
Hemangioma 		0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011