Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Because many ALT tumors express the mutant isocitrate dehydrogenase IDH1 R132H, including all lower grade astrocytomas and secondary glioblastoma, we examined a hypothesized role for IDH1 R132H in driving the ALT phenotype during gliomagenesis. 29545335

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Here, an in-depth characterization of IDH1 R132H mutations were assessed by immunohistochemistry in 55 paired primary-recurrent astrocytomas tissues, including 5 paired primary pilocytic astrocytoma (pPA, WHO grade I), 35 paired primary low grade astrocytoma (pLGA, WHO grade II and III) and 15 paired primary high grade astrocytoma (pHGA/ Glioblastoma, WHO grade IV). 28928859

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE No IDH1-R132H mutation was detected in 2 of 2 (0%) astrocytomas by immunohistochemistry. 26990854

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834

2015

dbSNP: rs121913500
rs121913500
T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas. 24557705

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE To study the putative expression patterns and clinical significance of Hsp27, we assessed the associations between Hsp27, R132H mutation of Isocitrate dehydrogenase1 (IDH1-R132H), Hypoxia-inducible factor subunit alpha (HIF-1 alpha), Carbonic anhydrase IX (CA IX), and patient prognosis in astrocytic gliomas. 24599602

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cell marker nestin, c-Met and IDH1-R132H, which have shown to be differentially expressed among the molecular subgroups of malignant gliomas, as well as to an inducer of astrocytic differentiation, that is, signal transducer and activator of transcription (p-STAT-3), clinicopathological features and survival. 23619925

2013

dbSNP: rs121913500
rs121913500
T 0.800 GeneticVariation CLINVAR Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. 19818334

2009

dbSNP: rs121913500
rs121913500
T 0.800 GeneticVariation CLINVAR IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. 19798509

2009

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. 19798509

2009

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. 19818334

2009

dbSNP: rs1057519903
rs1057519903
T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519903
rs1057519903
0.720 GeneticVariation BEFREE Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. 24285547

2014

dbSNP: rs121913499
rs121913499
A 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913499
rs121913499
T 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1057519903
rs1057519903
0.720 GeneticVariation BEFREE Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms. 23429371

2013

dbSNP: rs121913499
rs121913499
T 0.720 GeneticVariation CLINVAR Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 21352804

2011

dbSNP: rs121913499
rs121913499
0.720 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432

2009

dbSNP: rs121913499
rs121913499
0.720 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337

2009

dbSNP: rs1057519897
rs1057519897
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519898
rs1057519898
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016