rs121913499, IDH1

N. diseases: 51
Disease: Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). 31240473 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). 31240473 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation. 23358936 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE This is the first report to establish anti-IDH1-R132G-specific mAbs, which is useful in immunohistochemistry of IDH1-R132G-bearing tumors. 23485467 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. 22057236 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009