IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C2746066
Disease:
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C2746066
Disease:
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011