chr2:208236229:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:209,100,953-209,119,795 
hg38 chr2:208,236,229-208,255,071

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 chondrosarcoma The study shows that if an IDH1 mutation were detected in a primary central chon... BeFree 25432631 Detail
0.003 chondrosarcoma Here, we identified the spectrum of IDH mutations in human enchondromas and chon... BeFree 25730874 Detail
0.002 Chromosome Aberrations NA GAD Detail
<0.001 Congenital chromosomal disease Recent investigations of malignant gliomas have identified additional genetic an... BeFree 25471051 Detail
<0.001 ulcerative colitis NA BeFree Detail
<0.001 colorectal carcinoma We therefore examined IDH1 alteration as a potential cause of CIMP in colorectal... BeFree 25496513 Detail
<0.001 colorectal carcinoma Mathematical analysis predicts imbalanced IDH1/2 expression associates with 2-HG... BeFree 25586680 Detail
<0.001 common cold NA BeFree Detail
<0.001 craniopharyngioma NA BeFree Detail
0.241 Enchondromatosis Mutant IDH is sufficient to initiate enchondromatosis in mice. BeFree,CTD_human,ORPHANET 25730874 Detail
<0.001 Ependymoma NA BeFree Detail
<0.001 epilepsy NA BeFree Detail
<0.001 fibrosarcoma NA BeFree Detail
<0.001 Giant Cell Tumors Mutations of isocitrate dehydrogenase 1/2 (IDH1/2) have been reported in gliomas... BeFree 25324168 Detail
0.121 hemangioma NA BeFree,CTD_human Detail
0.005 Hematological Disease NA BeFree,GAD Detail
<0.001 hepatitis The frequencies of KRAS and IDHs mutations, which are associated with poor disea... BeFree 25636086 Detail
<0.001 hepatitis A The frequencies of KRAS and IDHs mutations, which are associated with poor disea... BeFree 25636086 Detail
0.003 HIV Infections NA BeFree,GAD Detail
<0.001 Angioimmunoblastic Lymphadenopathy NA BeFree Detail
<0.001 Kidney Failure, Acute NA BeFree Detail
<0.001 Vulvar Lichen Sclerosus NA BeFree Detail
0.004 leukemia Polymerase chain reaction (PCR) and direct sequencing were performed on exon 4 o... BeFree 24936872 Detail
0.004 leukemia Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyg... BeFree 25398939 Detail
0.004 leukemia Our study provides proof of concept for the molecular and biological activity of... BeFree 26436839 Detail
0.001 Acute lymphocytic leukemia NA BeFree Detail
0.001 myeloid leukemia NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
0.002 Leukemia, Myelomonocytic, Chronic NA GAD Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
0.002 Lung Neoplasms NA GAD Detail
<0.001 lymphoma NA BeFree Detail
0.003 Lymphoma, Non-Hodgkin NA BeFree,GAD Detail
0.121 Maffucci syndrome NA BeFree,ORPHANET Detail
<0.001 paroxysmal nocturnal hemoglobinuria No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, where... BeFree 25486927 Detail
0.004 melanoma Therefore, we propose that IDH1 may serve as a valuable target for melanoma ther... BeFree,GAD 26049021 Detail
<0.001 Metabolic Diseases NA BeFree Detail
0.002 Monosomy NA GAD Detail
<0.001 Acute Myeloid Leukemia, M1 NA BeFree Detail
0.005 Myeloproliferative disease We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree,GAD 25486927 Detail
0.003 Neoplasm Metastasis NA BeFree,GAD Detail
0.002 Nervous System Neoplasms NA GAD Detail
<0.001 osteosarcoma NA BeFree Detail
0.002 Pancreatic Neoplasm NA GAD Detail
<0.001 paraganglioma NA BeFree Detail
<0.001 pheochromocytoma IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in... BeFree 25766404 Detail
0.003 polycythemia vera NA BeFree,GAD Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.010 Preleukemia We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree,GAD 25486927 Detail
0.002 Seizures IDH1/2 mutation is associated with seizure as an initial symptom in low-grade gl... BeFree 25524848 Detail
0.002 Skin Neoplasms NA GAD Detail
<0.001 Soft Tissue Neoplasms NA BeFree Detail
0.003 Supratentorial Neoplasms NA BeFree,GAD Detail
0.003 Thrombocythemia, Essential NA BeFree,GAD Detail
0.003 Thyroid Neoplasm NA BeFree,GAD Detail
<0.001 Central Nervous System Neoplasms NA BeFree Detail
<0.001 Li-Fraumeni syndrome NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
0.001 Malignant neoplasm of brain NA BeFree Detail
<0.001 Tumor Progression It is plausible that the NRF2 pathway plays an important role in tumor progressi... BeFree 25304134 Detail
0.003 Neuroectodermal Tumor, Primitive NA BeFree,GAD Detail
<0.001 Follicular thyroid carcinoma NA BeFree Detail
0.002 Medullary carcinoma NA GAD Detail
0.122 cholangiocarcinoma Exome and the following prevalence sequencing identified mutations of the BAP1, ... BeFree,CTD_human 24532422 Detail
0.122 cholangiocarcinoma Recent whole-exome and targeted sequencing not only confirmed frequent mutations... BeFree,CTD_human 25693006 Detail
<0.001 Neoplasms, Neuroepithelial NA BeFree Detail
<0.001 ganglioglioma NA BeFree Detail
0.121 gliosarcoma NA BeFree,ORPHANET Detail
0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
<0.001 pediatric acute myeloblastic leukemia NA BeFree Detail
<0.001 Lesion of brain NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
<0.001 Neoplasm, Residual NA BeFree Detail
<0.001 Telangiectatic osteosarcoma Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and ... BeFree 26457357 Detail
<0.001 mixed gliomas NA BeFree Detail
<0.001 Acute respiratory failure NA BeFree Detail
<0.001 Petit mal status NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 chondroblastic osteosarcoma NA BeFree Detail
0.001 Solid tumour The role of mutant IDH in controlling hepatic differentiation state suggests the... BeFree 25485496 Detail
<0.001 secondary acute myeloid leukemia The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transfor... BeFree 25252869 Detail
<0.001 high-grade childhood cerebral astrocytoma Absence of IDH1/G-CIMP status further indicates that findings in adult GBM canno... BeFree 24997139 Detail
0.002 diffuse astrocytoma The mean of Olig2 LI of gliomas with 1p/19q loss ± IDH1/2 mutation, the majority... BeFree 25085214 Detail
0.001 mixed oligodendroglioma-astrocytoma After adjustment for IDH mutation, sex, and age, CDKN2A deletion was strongly as... BeFree 25853694 Detail
<0.001 Vascular Neoplasms NA BeFree Detail
0.001 gliomatosis cerebri NA BeFree Detail
0.007 anaplastic astrocytoma The IDH1 mutation status was also determined in patients with anaplastic astrocy... BeFree 24929863 Detail
0.007 anaplastic astrocytoma A model of a patient-derived IDH1 mutant anaplastic astrocytoma with alternative... BeFree 25471051 Detail
0.007 anaplastic astrocytoma IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation ... BeFree 25962792 Detail
0.002 pilocytic astrocytoma NA BeFree Detail
0.120 giant cell glioblastoma NA ORPHANET Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
0.002 intrahepatic cholangiocarcinoma Cholangiolar-type intrahepatic cholangiocarcinomas had a higher frequency of IDH... BeFree 24406866 Detail
0.002 intrahepatic cholangiocarcinoma In line with these findings, human ICC with IDH mutations are characterized by a... BeFree 25485496 Detail
<0.001 pilocytic astrocytoma of cerebellum NA BeFree Detail
<0.001 Malignant neoplasm of prostate Massively parallel paired-end sequencing of whole genomes of 10 primary chondros... BeFree 25024164 Detail
0.002 Hematologic Neoplasms IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wi... BeFree 25599133 Detail
<0.001 Nijmegen breakage syndrome NA BeFree Detail
<0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 Chondrogenic Neoplasm A recent comprehensive analysis of mesenchymal tumors identified an IDH1/2 mutat... BeFree 25250651 Detail
<0.001 Chondrogenic Neoplasm However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 Recurrent tumor NA BeFree Detail
0.001 Thyroid carcinoma NA BeFree Detail
0.001 Leukemogenesis Overall, our data suggest that IDH mutations are rare in the preleukemic disorde... BeFree 25486927 Detail
<0.001 Tumor Initiation NA BeFree Detail
<0.001 prostate carcinoma Massively parallel paired-end sequencing of whole genomes of 10 primary chondros... BeFree 25024164 Detail
<0.001 Glioma of brainstem Survival outcomes for adult WHO Grade II to IV brainstem gliomas were similar to... BeFree 25934342 Detail
0.004 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
0.121 Precursor Cell Lymphoblastic Leukemia Lymphoma Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.001 Acute lymphocytic leukemia Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.003 Thrombocythemia, Essential We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.003 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 germ cell cancer NA BeFree Detail
<0.001 biliary tract cancer IDH mutations in liver cell plasticity and biliary cancer. BeFree 25485496 Detail
0.001 Brain Tumor, Primary Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes suggest ... BeFree 25727224 Detail
<0.001 Chromosome 1, monosomy 1p There was no deletion 1p19q in 118 cases, codeletion 1p19q (57 cases), single de... BeFree 25261925 Detail
<0.001 Chromosome 8, monosomy 8p NA BeFree Detail
<0.001 Chromosome 8, trisomy 8p NA BeFree Detail
<0.001 breast adenocarcinoma NA BeFree Detail
<0.001 dedifferentiated chondrosarcoma However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 dedifferentiated chondrosarcoma Deep parallel sequencing of the dedifferentiated component showed a nonsynonymou... BeFree 26198745 Detail
0.121 chondroma We here described clinical and pathological features in a new case of convexity ... BeFree,CTD_human 25250651 Detail
<0.001 Intestinal adenocarcinoma NA BeFree Detail
<0.001 Chronic myeloproliferative disorder We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 Single tumor NA BeFree Detail
<0.001 spindle cell hemangioma NA BeFree Detail
<0.001 Astrocytoma, low grade NA BeFree Detail
<0.001 Oligodendroglial Neoplasm Adult LGG are characterized by IDH1/2 mutations and ATRX mutations in astrocytic... BeFree 25664944 Detail
<0.001 Oligodendroglial Neoplasm We conclude that the majority of IDLGGs are IDH1 mutated and are predominantly o... BeFree 25674227 Detail
<0.001 Conventional Chondrosarcoma Massively parallel paired-end sequencing of whole genomes of 10 primary chondros... BeFree 25024164 Detail
<0.001 Conventional Chondrosarcoma Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in... BeFree 25432631 Detail
<0.001 Conventional Chondrosarcoma However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 Vascular lesions NA BeFree Detail
0.002 oxyphilic adenoma NA GAD Detail
0.002 Primary Glioblastoma The large majority of lower-grade gliomas without an IDH mutation had genomic ab... BeFree 26061751 Detail
0.005 Secondary Glioblastoma Comparison of our sGBM data with TCGA pGBM data indicate that IDH1 mutated GBM s... BeFree 25012071 Detail
0.005 Secondary Glioblastoma IDH1/2 mutations are tightly associated with grade II and III gliomas and second... BeFree 25078896 Detail
0.005 Secondary Glioblastoma Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the m... BeFree 25225364 Detail
<0.001 Xenograft Model NA BeFree Detail
<0.001 colorectal cancer We therefore examined IDH1 alteration as a potential cause of CIMP in colorectal... BeFree 25496513 Detail
<0.001 colorectal cancer Mathematical analysis predicts imbalanced IDH1/2 expression associates with 2-HG... BeFree 25586680 Detail
<0.001 Neoplasms, Intracranial NA BeFree Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation NA BeFree Detail
<0.001 Neurocytoma NA BeFree Detail
<0.001 Grade I Astrocytoma NA BeFree Detail
<0.001 Enchondroma Taken together, these data show that mutant IDH or d-2HG causes persistence of c... BeFree 25730874 Detail
<0.001 Enchondroma However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 D-2-hydroxyglutaric aciduria NA BeFree Detail
<0.001 MULTICYSTIC RENAL DYSPLASIA, BILATERAL NA BeFree Detail
0.121 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,CTD_human Detail
0.121 liver carcinoma Our results for the first time suggest that IDH gene polymorphisms may serve as ... BeFree,CTD_human 25355558 Detail
<0.001 combined D-2- and L-2-hydroxyglutaric aciduria NA BeFree Detail
0.010 myelodysplastic syndrome We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree,GAD 25486927 Detail
<0.001 Progressive cGVHD NA BeFree Detail
0.120 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA NA ORPHANET Detail
<0.001 Radiation Damage NA BeFree Detail
0.001 Cytogenetically normal acute myeloid leukemia NA BeFree Detail
<0.001 Congenital Abnormality NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
0.004 Primary myelofibrosis The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transfor... BeFree,GAD 25252869 Detail
<0.001 aplastic anemia We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 Mental disorders NA BeFree Detail
0.006 Blast Phase NA BeFree,GAD Detail
<0.001 Bone neoplasms These tumors are characterized by frequent gain-of-function mutations in the iso... BeFree 25485496 Detail
0.040 Brain Neoplasms We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study... BeFree,GAD 24366912 Detail
0.040 Brain Neoplasms Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the m... BeFree,GAD 25225364 Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
0.002 Carcinoma, Papillary NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
The study shows that if an IDH1 mutation were detected in a primary central chondrosarcoma, it is al... DisGeNET Detail
Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and stud... DisGeNET Detail
NA DisGeNET Detail
Recent investigations of malignant gliomas have identified additional genetic and chromosomal abnorm... DisGeNET Detail
NA DisGeNET Detail
We therefore examined IDH1 alteration as a potential cause of CIMP in colorectal cancer. DisGeNET Detail
Mathematical analysis predicts imbalanced IDH1/2 expression associates with 2-HG-inactivating β-oxyg... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutant IDH is sufficient to initiate enchondromatosis in mice. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations of isocitrate dehydrogenase 1/2 (IDH1/2) have been reported in gliomas and other types of ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The frequencies of KRAS and IDHs mutations, which are associated with poor disease-free survival, we... DisGeNET Detail
The frequencies of KRAS and IDHs mutations, which are associated with poor disease-free survival, we... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Polymerase chain reaction (PCR) and direct sequencing were performed on exon 4 of IDH1/2 genes and m... DisGeNET Detail
Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophi... DisGeNET Detail
Our study provides proof of concept for the molecular and biological activity of novel allosteric in... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, whereas IDH1 G105G allele... DisGeNET Detail
Therefore, we propose that IDH1 may serve as a valuable target for melanoma therapy. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH pr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
IDH1/2 mutation is associated with seizure as an initial symptom in low-grade glioma: A report of 31... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
It is plausible that the NRF2 pathway plays an important role in tumor progression of anaplastic gli... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Exome and the following prevalence sequencing identified mutations of the BAP1, ARID1A, IDH1 and IDH... DisGeNET Detail
Recent whole-exome and targeted sequencing not only confirmed frequent mutations in known CCA-relate... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and IDH2 mutations in GC... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The role of mutant IDH in controlling hepatic differentiation state suggests the potential of newly ... DisGeNET Detail
The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transformation and was predo... DisGeNET Detail
Absence of IDH1/G-CIMP status further indicates that findings in adult GBM cannot be simply extrapol... DisGeNET Detail
The mean of Olig2 LI of gliomas with 1p/19q loss ± IDH1/2 mutation, the majority of them being oligo... DisGeNET Detail
After adjustment for IDH mutation, sex, and age, CDKN2A deletion was strongly associated with poorer... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The IDH1 mutation status was also determined in patients with anaplastic astrocytomas and AOA, and A... DisGeNET Detail
A model of a patient-derived IDH1 mutant anaplastic astrocytoma with alternative lengthening of telo... DisGeNET Detail
IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little differenc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cholangiolar-type intrahepatic cholangiocarcinomas had a higher frequency of IDH1 or 2 mutations tha... DisGeNET Detail
In line with these findings, human ICC with IDH mutations are characterized by a hepatic progenitor ... DisGeNET Detail
NA DisGeNET Detail
Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed tha... DisGeNET Detail
IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wild-type cells to ABT... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A recent comprehensive analysis of mesenchymal tumors identified an IDH1/2 mutation in cartilaginous... DisGeNET Detail
However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identif... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Overall, our data suggest that IDH mutations are rare in the preleukemic disorders and may not be th... DisGeNET Detail
NA DisGeNET Detail
Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed tha... DisGeNET Detail
Survival outcomes for adult WHO Grade II to IV brainstem gliomas were similar to supratentorial IDH1... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
NA DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
NA DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
IDH mutations in liver cell plasticity and biliary cancer. DisGeNET Detail
Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes suggest a role for this abno... DisGeNET Detail
There was no deletion 1p19q in 118 cases, codeletion 1p19q (57 cases), single deletion 1p (4 cases) ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identif... DisGeNET Detail
Deep parallel sequencing of the dedifferentiated component showed a nonsynonymous mutation at exon 4... DisGeNET Detail
We here described clinical and pathological features in a new case of convexity dural chondroma with... DisGeNET Detail
NA DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Adult LGG are characterized by IDH1/2 mutations and ATRX mutations in astrocytic tumors and IDH1/2 m... DisGeNET Detail
We conclude that the majority of IDLGGs are IDH1 mutated and are predominantly oligodendroglial tumo... DisGeNET Detail
Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed tha... DisGeNET Detail
Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondr... DisGeNET Detail
However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identif... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The large majority of lower-grade gliomas without an IDH mutation had genomic aberrations and clinic... DisGeNET Detail
Comparison of our sGBM data with TCGA pGBM data indicate that IDH1 mutated GBM samples have very sim... DisGeNET Detail
IDH1/2 mutations are tightly associated with grade II and III gliomas and secondary glioblastomas, w... DisGeNET Detail
Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the most common initiatin... DisGeNET Detail
NA DisGeNET Detail
We therefore examined IDH1 alteration as a potential cause of CIMP in colorectal cancer. DisGeNET Detail
Mathematical analysis predicts imbalanced IDH1/2 expression associates with 2-HG-inactivating β-oxyg... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Taken together, these data show that mutant IDH or d-2HG causes persistence of chondrocytes, giving ... DisGeNET Detail
However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identif... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our results for the first time suggest that IDH gene polymorphisms may serve as an independent progn... DisGeNET Detail
NA DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transformation and was predo... DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These tumors are characterized by frequent gain-of-function mutations in the isocitrate dehydrogenas... DisGeNET Detail
We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study the expression of H... DisGeNET Detail
Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the most common initiatin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
rs386626619 dbSNP
Genome
hg38
Position
chr2:208,236,229-208,255,071
Variant Type
snv
Genome browser