rs121913499, IDH1

N. diseases: 51
Disease: Glioblastoma Multiforme ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. 19117336 2009