chr2:209113112:C>T Detail (hg19) (IDH1)

Information

Genome

Assembly Position
hg19 chr2:209,113,112-209,113,112
hg38 chr2:208,248,388-208,248,388 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005896.3:c.395G>A NP_005887.2:p.Arg132His
NM_001282387.1:c.395G>A NP_001269316.1:p.Arg132His
NM_001282386.1:c.395G>A NP_001269315.1:p.Arg132His
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic not provided
Variant entry 25
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 147700 OMIM
HGNC 5382 HGNC
Ensembl ENSG00000138413 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM28746 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Glioma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Bladder cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Likely pathogenic RAEB(refractory anemia with excess blasts)-1 unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic RAEB-2 unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic myelodysplastic syndrome;MDS|RAEB(refractory anemia with excess blasts)-1, RAEB-2 unknown MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic glioma somatic MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-08-21 no assertion criteria provided Glioblastoma multiforme, somatic somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
not provided 2016-03-10 no assertion provided oligodendroglioma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided adenoid cystic carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Astrocytoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Pathogenic 2018-11-02 criteria provided, single submitter Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria germline Detail
Pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic no assertion criteria provided Glioma susceptibility 1 germline Detail
Pathogenic Likely pathogenic 2022-05-09 criteria provided, multiple submitters, no conflicts Enchondromatosis germline de novo Detail
Pathogenic 2023-08-02 criteria provided, single submitter Metaphyseal chondromatosis germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
pancreatic ductal adenocarcinoma Ivosidenib C Predictive Does Not Support Sensitivity/Response Somatic 2 27466707 Detail
oligodendroglioma AGI-5198 D Predictive Supports Sensitivity/Response Somatic 4 23558169 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Glioma Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT--&gt;CAT) be... BeFree 19340432 Detail
0.222 Glioma Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT--&gt;CAT) be... BeFree 19340432 Detail
0.246 oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.008 glioblastoma ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an... BeFree 25427834 Detail
0.122 anaplastic oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
<0.001 Vascular lesions We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.002 Astrocytoma ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an... BeFree 25427834 Detail
0.009 Well Differentiated Oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.053 glioblastoma ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an... BeFree 25427834 Detail
0.139 oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
<0.001 Vascular lesions We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.004 Carcinogenesis The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively,... BeFree 25251602 Detail
0.007 anaplastic oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.053 glioblastoma Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cel... BeFree 23115158 Detail
0.052 Glioma Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H... BeFree 25324168 Detail
0.007 Carcinogenesis The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively,... BeFree 25251602 Detail
0.004 Well Differentiated Oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.010 Astrocytoma ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an... BeFree 25427834 Detail
0.008 glioblastoma Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cel... BeFree 23115158 Detail
0.121 hemangioma We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.001 glioblastoma ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an... BeFree 25427834 Detail
0.120 hemangioma We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.222 Glioma IDH1 sequencing revealed two mutations (IDH1 (R132G) , IDH1 (R132C) ) out of 7 D... BeFree 24242757 Detail
<0.001 stomach carcinoma R132H and R132C missense mutations in the IDH1 gene were observed, and are the f... BeFree 25656989 Detail
0.002 Glioblastoma multiforme Using antibody against p53 and IDH1 R132H, the authors immunohistochemically ana... BeFree 25415071 Detail
<0.001 Glioma Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of... BeFree 26017892 Detail
0.222 Glioma To analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain b... BeFree 22158715 Detail
0.003 Astrocytoma To study the putative expression patterns and clinical significance of Hsp27, we... BeFree 24599602 Detail
0.007 anaplastic oligodendroglioma The mutation analysis performed on the latter case with DNA separately sampled f... BeFree 22385787 Detail
0.139 oligodendroglioma We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistr... BeFree 23934175 Detail
0.009 Well Differentiated Oligodendroglioma This glioma xenograft is the first to display a pure oligodendroglioma histology... BeFree 23527265 Detail
0.053 glioblastoma We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistr... BeFree 23934175 Detail
0.007 anaplastic astrocytoma C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutat... BeFree 24473683 Detail
0.028 Astrocytoma As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powe... BeFree 23934769 Detail
0.222 Glioma The p.Arg132His mutation of isocitrate dehydrogenase 1 (IDH1(R132H) ) is a frequ... BeFree 20886613 Detail
<0.001 breast carcinoma The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemi... BeFree 23111200 Detail
<0.001 gliomatosis cerebri These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistoc... BeFree 21516462 Detail
0.139 oligodendroglioma The mutation analysis performed on the latter case with DNA separately sampled f... BeFree 22385787 Detail
0.001 gliomatosis cerebri These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistoc... BeFree 21516462 Detail
0.051 Leukemia, Myelocytic, Acute The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemi... BeFree 23111200 Detail
0.222 Glioma The absence of mutant IDH1 R132H protein expression in AG may help further disti... BeFree 22445362 Detail
0.005 Malignant glioma c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgrou... BeFree 23619925 Detail
0.002 pilocytic astrocytoma Our results indicate the usefulness of assessing the R132H IDH1 mutation in glio... BeFree 23934769 Detail
0.016 Malignant glioma cMYC expression associated with younger age as well as p53 immunopositivity (OR ... BeFree 23934175 Detail
0.007 anaplastic astrocytoma The IDH1 c.G395A; p.R132H mutation was observed in 56 and 94 % of grade II and g... BeFree 23934769 Detail
0.053 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.007 anaplastic oligodendroglioma We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistr... BeFree 23934175 Detail
<0.001 Malignant glioma We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation ... BeFree 23619925 Detail
0.222 Glioma Similarly, the R132H isocitrate dehydrogenase 1 IDH1 mutation, which can now be ... BeFree 21516462 Detail
0.053 glioblastoma Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the ... BeFree 23011765 Detail
0.006 glioblastoma We also found that overexpression of αB-crystallin can be induced by transfectin... BeFree 24473683 Detail
0.005 Malignant glioma cMYC expression associated with younger age as well as p53 immunopositivity (OR ... BeFree 23934175 Detail
0.040 Brain Neoplasms A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct s... BeFree 21643842 Detail
<0.001 Single tumor To analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain b... BeFree 22158715 Detail
0.028 Astrocytoma To study the putative expression patterns and clinical significance of Hsp27, we... BeFree 24599602 Detail
<0.001 Glioma In conclusion, the association of a C-terminally truncated form of αB-crystallin... BeFree 24473683 Detail
<0.001 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.053 glioblastoma Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly r... BeFree 22821382 Detail
0.053 glioblastoma The shorter interval of progression and negative IDH1-R132H mutation status sugg... BeFree 22197544 Detail
0.222 Glioma Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of g... BeFree 20077503 Detail
0.001 Malignant neoplasm of brain In the current study, we used 2D DIGE (difference gel electrophoresis) and mass ... BeFree 24473683 Detail
0.003 low grade glioma Over 70% of low-grade gliomas carry a heterozygous R132H mutation in the gene co... BeFree 25243911 Detail
0.053 glioblastoma Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1... BeFree 22785212 Detail
0.125 Astrocytoma To study the putative expression patterns and clinical significance of Hsp27, we... BeFree 24599602 Detail
0.121 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.001 Malignant glioma We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation ... BeFree 23619925 Detail
<0.001 Malignant glioma We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation ... BeFree 23619925 Detail
0.007 anaplastic oligodendroglioma This glioma xenograft is the first to display a pure oligodendroglioma histology... BeFree 23527265 Detail
0.028 Astrocytoma IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendrog... BeFree 19798509 Detail
0.132 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.040 Brain Neoplasms Characterization of R132H mutation-specific IDH1 antibody binding in brain tumor... BeFree 19903171 Detail
0.007 anaplastic astrocytoma In conclusion, the anti-IDH1-R132H-specific monoclonal antibody IMab-1 is very u... BeFree 21344322 Detail
0.222 Glioma Absence of IDH1-R132H mutation predicts rapid progression of nonenhancing diffus... BeFree 22197544 Detail
0.002 Seizures 1p19q co-deletion status did not predict seizures when controlled for mutant IDH... BeFree 24986208 Detail
<0.001 Anaplastic Oligoastrocytoma Mutant IDH1-R132H was detected in 69% of the AOA cohort; a combination of KPNA2 ... BeFree 24929863 Detail
0.256 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.222 Glioma In conclusion, the association of a C-terminally truncated form of αB-crystallin... BeFree 24473683 Detail
0.222 Glioma Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly r... BeFree 22821382 Detail
0.222 Glioma Value and limitations of immunohistochemistry and gene sequencing for detection ... BeFree 21760534 Detail
<0.001 Astrocytoma Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutat... BeFree 24557705 Detail
0.222 Glioma All these findings indicated that R132H mutational IDH1 is involved in the regul... BeFree 23011765 Detail
0.007 anaplastic astrocytoma We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistr... BeFree 23934175 Detail
<0.001 Malignant neoplasm of breast The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemi... BeFree 23111200 Detail
0.051 Leukemia, Myelocytic, Acute Here we performed a large-scale RNA interference (RNAi) screen to identify genes... BeFree 25599133 Detail
<0.001 Glioma Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of... BeFree 26017892 Detail
0.222 Glioma Also, we have shown that the expression of IDH1 R132H in GTNI is largely concord... BeFree 22385787 Detail
<0.001 anaplastic astrocytoma C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutat... BeFree 24473683 Detail
<0.001 Astrocytoma Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutat... BeFree 24557705 Detail
0.001 mixed oligodendroglioma-astrocytoma The IDH1 R132H was expressed in the 2 cases with oligoastrocytoma: In 1, NIs and... BeFree 22385787 Detail
0.176 Glioma Activated leukocyte adhesion molecule expression in gliomas was independent of p... BeFree 22304788 Detail
0.222 Glioma Several inhibitors were found to be permeable through the blood-brain barrier in... BeFree 25271760 Detail
0.222 Glioma Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1... BeFree 22785212 Detail
0.222 Glioma The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemi... BeFree 23111200 Detail
0.222 Glioma IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy ... BeFree 24895549 Detail
0.053 glioblastoma Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, o... BeFree 21955925 Detail
0.139 oligodendroglioma This glioma xenograft is the first to display a pure oligodendroglioma histology... BeFree 23527265 Detail
0.222 Glioma This glioma xenograft is the first to display a pure oligodendroglioma histology... BeFree 23527265 Detail
0.040 Brain Neoplasms Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumo... BeFree 24077277 Detail
0.053 glioblastoma We also found that overexpression of αB-crystallin can be induced by transfectin... BeFree 24473683 Detail
0.028 Astrocytoma Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in ast... BeFree 19818334 Detail
0.028 Astrocytoma The mutation analysis performed on the latter case with DNA separately sampled f... BeFree 22385787 Detail
0.005 Secondary Glioblastoma IDH1 R132H mutation has been described as a common molecular signature of grade ... BeFree 22445362 Detail
0.222 Glioma Furthermore our OncoPanel analysis revealed that 15% of IDH1/2 mutant gliomas wo... BeFree 25257301 Detail
0.001 Astrocytoma We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation ... BeFree 23619925 Detail
0.222 Glioma The aim of this study was to evaluate the prognostic relevance of an antibody sp... BeFree 21845536 Detail
0.051 Leukemia, Myelocytic, Acute Detection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific ... BeFree 22172803 Detail
0.011 Glioma Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of... BeFree 26017892 Detail
0.222 Glioma Activated leukocyte adhesion molecule expression in gliomas was independent of p... BeFree 22304788 Detail
0.222 Glioma IDH1 R132H mutation generates a distinct phospholipid metabolite profile in glio... BeFree 25005896 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation Our results indicate that the IDH1 R132H mutation is a powerful prognostic marke... BeFree 20560678 Detail
0.053 glioblastoma Our results indicate that the IDH1 R132H mutation is a powerful prognostic marke... BeFree 20560678 Detail
0.222 Glioma The distinctive mutation IDH1 R132H was uncovered to be a strong prognostic biom... BeFree 24511544 Detail
0.222 Glioma We report that glioma cells showing the IDH1(R132H) mutation become rapidly and ... BeFree 24922649 Detail
0.222 Glioma Double staining for IDH1-R132H and Ki-67 demonstrated that most invading cells t... BeFree 24384677 Detail
0.002 Glioma To assess the value of anti-isocitrate dehydrogenase 1 (IDH1) immunohistochemist... BeFree 21760534 Detail
0.004 Ependymoma As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powe... BeFree 23934769 Detail
0.222 Glioma Isocitrate dehydrogenase 1 (IDH1) mutations arecommon in lower-grade gliomas, wi... BeFree 21343879 Detail
0.222 Glioma Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of... BeFree 26017892 Detail
0.009 Well Differentiated Oligodendroglioma The mutation analysis performed on the latter case with DNA separately sampled f... BeFree 22385787 Detail
<0.001 Neoplasms, Neuroepithelial Diffuse leptomeningeal neuroepithelial tumor: 9 pediatric cases with chromosome ... BeFree 23588371 Detail
0.005 Malignant glioma Isocitrate dehydrogenase 1 gene (IDH1) R132H mutation status was also recently i... BeFree 24929863 Detail
0.009 Well Differentiated Oligodendroglioma We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistr... BeFree 23934175 Detail
0.222 Glioma As IDH1(R132H) is present in all tumour cells of these slow-growing gliomas, a m... BeFree 25043048 Detail
<0.001 Ependymoma As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powe... BeFree 23934769 Detail
Annotation

Annotations

DescrptionSourceLinks
A 48-year-old female was diagnosed with metastatic pancreatic ductal adenocarcinoma and subsequently... CIViC Evidence Detail
In pre-clinical studies, an IDH1 inhibitor (AG-5198) impaired growth of glioma / anaplastic oligoden... CIViC Evidence Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Glioblastoma multiforme, somatic ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Hepatocellular carcinoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Myelodysplastic syndrome ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Brainstem glioma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Oligodendroglioma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Medulloblastoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Adenoid cystic carcinoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Neoplasm of brain ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Acute myeloid leukemia ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Neoplasm of the large intestine ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Prostate adenocarcinoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Malignant melanoma of skin ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Lung adenocarcinoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Multiple myeloma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Breast neoplasm ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Astrocytoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Glioblastoma ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Metaphyseal chondromatosis with D-2-hydroxyglutaric aci... ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND not provided ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Glioma susceptibility 1 ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Enchondromatosis ClinVar Detail
NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Metaphyseal chondromatosis ClinVar Detail
Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT--&gt;CAT) being the most common ... DisGeNET Detail
Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT--&gt;CAT) being the most common ... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively, (IDH1 and IDH2) hav... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in incre... DisGeNET Detail
Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H, R132S, R132G) and ... DisGeNET Detail
The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively, (IDH1 and IDH2) hav... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ... DisGeNET Detail
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in incre... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
IDH1 sequencing revealed two mutations (IDH1 (R132G) , IDH1 (R132C) ) out of 7 DIBG whereas the R132... DisGeNET Detail
R132H and R132C missense mutations in the IDH1 gene were observed, and are the first reported mutati... DisGeNET Detail
Using antibody against p53 and IDH1 R132H, the authors immunohistochemically analyzed GBM tissue fro... DisGeNET Detail
Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of CIC protein to the ... DisGeNET Detail
To analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain by identification of ... DisGeNET Detail
To study the putative expression patterns and clinical significance of Hsp27, we assessed the associ... DisGeNET Detail
The mutation analysis performed on the latter case with DNA separately sampled from the oligodendrog... DisGeNET Detail
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with o... DisGeNET Detail
This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R... DisGeNET Detail
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with o... DisGeNET Detail
C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutation in anaplastic as... DisGeNET Detail
As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic mark... DisGeNET Detail
The p.Arg132His mutation of isocitrate dehydrogenase 1 (IDH1(R132H) ) is a frequent alteration and a... DisGeNET Detail
The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not ... DisGeNET Detail
These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is ... DisGeNET Detail
The mutation analysis performed on the latter case with DNA separately sampled from the oligodendrog... DisGeNET Detail
These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is ... DisGeNET Detail
The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not ... DisGeNET Detail
The absence of mutant IDH1 R132H protein expression in AG may help further distinguish this unique n... DisGeNET Detail
c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgroups of malignant glio... DisGeNET Detail
Our results indicate the usefulness of assessing the R132H IDH1 mutation in glioma patients: the pre... DisGeNET Detail
cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) a... DisGeNET Detail
The IDH1 c.G395A; p.R132H mutation was observed in 56 and 94 % of grade II and grade III astrocytoma... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with o... DisGeNET Detail
We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cel... DisGeNET Detail
Similarly, the R132H isocitrate dehydrogenase 1 IDH1 mutation, which can now be detected by use of a... DisGeNET Detail
Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and ... DisGeNET Detail
We also found that overexpression of αB-crystallin can be induced by transfecting U251 human gliobla... DisGeNET Detail
cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) a... DisGeNET Detail
A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for pr... DisGeNET Detail
To analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain by identification of ... DisGeNET Detail
To study the putative expression patterns and clinical significance of Hsp27, we assessed the associ... DisGeNET Detail
In conclusion, the association of a C-terminally truncated form of αB-crystallin protein with the ID... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacem... DisGeNET Detail
The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecu... DisGeNET Detail
Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma. DisGeNET Detail
In the current study, we used 2D DIGE (difference gel electrophoresis) and mass spectrometry to anal... DisGeNET Detail
Over 70% of low-grade gliomas carry a heterozygous R132H mutation in the gene coding for isocitrate ... DisGeNET Detail
Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1 (R132H)) occurs in ... DisGeNET Detail
To study the putative expression patterns and clinical significance of Hsp27, we assessed the associ... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cel... DisGeNET Detail
We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cel... DisGeNET Detail
This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R... DisGeNET Detail
IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. DisGeNET Detail
In conclusion, the anti-IDH1-R132H-specific monoclonal antibody IMab-1 is very useful for detecting ... DisGeNET Detail
Absence of IDH1-R132H mutation predicts rapid progression of nonenhancing diffuse glioma in older ad... DisGeNET Detail
1p19q co-deletion status did not predict seizures when controlled for mutant IDH1-R132H expression, ... DisGeNET Detail
Mutant IDH1-R132H was detected in 69% of the AOA cohort; a combination of KPNA2 low expression and m... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
In conclusion, the association of a C-terminally truncated form of αB-crystallin protein with the ID... DisGeNET Detail
Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacem... DisGeNET Detail
Value and limitations of immunohistochemistry and gene sequencing for detection of the IDH1-R132H mu... DisGeNET Detail
Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas. DisGeNET Detail
All these findings indicated that R132H mutational IDH1 is involved in the regulation of proliferati... DisGeNET Detail
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with o... DisGeNET Detail
The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not ... DisGeNET Detail
Here we performed a large-scale RNA interference (RNAi) screen to identify genes that are synthetic ... DisGeNET Detail
Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of CIC protein to the ... DisGeNET Detail
Also, we have shown that the expression of IDH1 R132H in GTNI is largely concordant with that in dif... DisGeNET Detail
C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutation in anaplastic as... DisGeNET Detail
Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas. DisGeNET Detail
The IDH1 R132H was expressed in the 2 cases with oligoastrocytoma: In 1, NIs and the astrocytoma-lik... DisGeNET Detail
Activated leukocyte adhesion molecule expression in gliomas was independent of proliferative activit... DisGeNET Detail
Several inhibitors were found to be permeable through the blood-brain barrier in a cell-based model ... DisGeNET Detail
Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1 (R132H)) occurs in ... DisGeNET Detail
The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not ... DisGeNET Detail
IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy in hypoxia. DisGeNET Detail
Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximatel... DisGeNET Detail
This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R... DisGeNET Detail
This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R... DisGeNET Detail
Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymat... DisGeNET Detail
We also found that overexpression of αB-crystallin can be induced by transfecting U251 human gliobla... DisGeNET Detail
Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunoh... DisGeNET Detail
The mutation analysis performed on the latter case with DNA separately sampled from the oligodendrog... DisGeNET Detail
IDH1 R132H mutation has been described as a common molecular signature of grade II and III diffuse g... DisGeNET Detail
Furthermore our OncoPanel analysis revealed that 15% of IDH1/2 mutant gliomas would not be detected ... DisGeNET Detail
We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cel... DisGeNET Detail
The aim of this study was to evaluate the prognostic relevance of an antibody specifically detecting... DisGeNET Detail
Detection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific immunohistochemistry... DisGeNET Detail
Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of CIC protein to the ... DisGeNET Detail
Activated leukocyte adhesion molecule expression in gliomas was independent of proliferative activit... DisGeNET Detail
IDH1 R132H mutation generates a distinct phospholipid metabolite profile in glioma. DisGeNET Detail
Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated wit... DisGeNET Detail
Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated wit... DisGeNET Detail
The distinctive mutation IDH1 R132H was uncovered to be a strong prognostic biomarker for glioma pat... DisGeNET Detail
We report that glioma cells showing the IDH1(R132H) mutation become rapidly and spontaneously senesc... DisGeNET Detail
Double staining for IDH1-R132H and Ki-67 demonstrated that most invading cells that expressed IDH1-R... DisGeNET Detail
To assess the value of anti-isocitrate dehydrogenase 1 (IDH1) immunohistochemistry for evaluating di... DisGeNET Detail
As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic mark... DisGeNET Detail
Isocitrate dehydrogenase 1 (IDH1) mutations arecommon in lower-grade gliomas, with most causing a sp... DisGeNET Detail
Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of CIC protein to the ... DisGeNET Detail
The mutation analysis performed on the latter case with DNA separately sampled from the oligodendrog... DisGeNET Detail
Diffuse leptomeningeal neuroepithelial tumor: 9 pediatric cases with chromosome 1p/19q deletion stat... DisGeNET Detail
Isocitrate dehydrogenase 1 gene (IDH1) R132H mutation status was also recently identified as a progn... DisGeNET Detail
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with o... DisGeNET Detail
As IDH1(R132H) is present in all tumour cells of these slow-growing gliomas, a mutation-specific ant... DisGeNET Detail
As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic mark... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913500 dbSNP
Genome
hg19
Position
chr2:209,113,112-209,113,112
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121382
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.647690761397901E-5
Variant (CIViC) (CIViC Variant)
R132H
Transcript 1 (CIViC Variant)
ENST00000415913.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/420
Summary (CIViC Variant)
IDH1 R132 mutations have been observed in a number of cancer types, and appear to behave quite differently in different environments. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 R132 mutations have been shown to be associated with worse outcome and shorter overall survival. They have also been linked to cytogenetically normal AML, an intermediate risk subtype of the disease. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Also in contrast to AML, in glioblastoma, IDH1 mutations have been associated with the specific cytogenetic abnormalities, 1p and 19q deletions.
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