chr15:90083045:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr15:90,626,277-90,645,709 
hg38 chr15:90,083,045-90,102,477

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
<0.001 Cardiomyopathy, Dilated NA BeFree Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
<0.001 chondroblastoma Specific H3F3A driver mutations and IDH2 mutations were recently described in gi... BeFree 26457357 Detail
0.002 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 colorectal carcinoma The study of OxPhos-related genes revealed that an imbalance between the express... BeFree 25586680 Detail
0.241 Enchondromatosis Mutant IDH is sufficient to initiate enchondromatosis in mice. BeFree,CTD_human,ORPHANET 25730874 Detail
0.120 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
0.121 Angioimmunoblastic Lymphadenopathy Although IDH2 mutations are largely confined to AITL, mutations of the other 3 c... BeFree,CTD_human 26268241 Detail
<0.001 Vulvar Lichen Sclerosus NA BeFree Detail
0.004 leukemia Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyg... BeFree 25398939 Detail
0.001 Acute lymphocytic leukemia NA BeFree Detail
0.036 Leukemia, Myelocytic, Acute Firstly, by analyzing biomarkers associated with AML, to assist normal clinical ... BeFree,GAD 24867525 Detail
0.036 Leukemia, Myelocytic, Acute Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes ... BeFree,GAD 24986689 Detail
0.036 Leukemia, Myelocytic, Acute In conclusion, our study showed a high frequency of FLT3, RUNX1, and IDH mutatio... BeFree,GAD 25022553 Detail
0.036 Leukemia, Myelocytic, Acute Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate ... BeFree,GAD 25398940 Detail
0.036 Leukemia, Myelocytic, Acute These data provide a role for WT1 in regulating DNA hydroxymethylation and sugge... BeFree,GAD 25482556 Detail
0.036 Leukemia, Myelocytic, Acute Overall, our data suggest that IDH mutations are rare in the preleukemic disorde... BeFree,GAD 25486927 Detail
0.036 Leukemia, Myelocytic, Acute IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wi... BeFree,GAD 25599133 Detail
0.036 Leukemia, Myelocytic, Acute Here we report that WT1, a sequence-specific transcription factor, is mutated in... BeFree,GAD 25601757 Detail
0.036 Leukemia, Myelocytic, Acute IDH1 and IDH2 mutations may predict a favorable response to DNMTI in patients wi... BeFree,GAD 25651001 Detail
0.036 Leukemia, Myelocytic, Acute IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways i... BeFree,GAD 25795706 Detail
0.036 Leukemia, Myelocytic, Acute Characteristics, clinical outcome, and prognostic significance of IDH mutations ... BeFree,GAD 26016821 Detail
0.036 Leukemia, Myelocytic, Acute Biochemical, Epigenetic, and Metabolic Approaches to Target IDH Mutations in Acu... BeFree,GAD 26111463 Detail
0.036 Leukemia, Myelocytic, Acute As the genetic landscape of AML has been mapped, other attractive targets for th... BeFree,GAD 26111466 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
0.121 Maffucci syndrome NA BeFree,ORPHANET Detail
<0.001 paroxysmal nocturnal hemoglobinuria We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
0.003 melanoma NA BeFree,GAD Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 muscular dystrophy NA BeFree Detail
<0.001 myelofibrosis NA BeFree 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
0.120 Degenerative polyarthritis NA CTD_human Detail
0.120 osteoporosis NA CTD_human Detail
<0.001 osteosarcoma NA BeFree 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
<0.001 retinitis pigmentosa NA BeFree Detail
0.002 Skin Neoplasms NA GAD Detail
0.003 Thrombocythemia, Essential NA BeFree,GAD Detail
0.121 peripheral T-cell lymphoma Although IDH2 mutations are largely confined to AITL, mutations of the other 3 c... BeFree,CTD_human 26268241 Detail
<0.001 Central Nervous System Neoplasms NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 Bone Cysts, Aneurysmal Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and ... BeFree 26457357 Detail
<0.001 Malignant neoplasm of brain NA BeFree Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 Giant Cell Tumor of Bone Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and ... BeFree 26457357 Detail
0.122 cholangiocarcinoma Exome and the following prevalence sequencing identified mutations of the BAP1, ... BeFree,CTD_human 24532422 Detail
<0.001 ganglioglioma NA BeFree 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 Telangiectatic osteosarcoma Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and ... BeFree 26457357 Detail
<0.001 Erythroblastosis NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Solid tumour The role of mutant IDH in controlling hepatic differentiation state suggests the... BeFree 25485496 Detail
<0.001 high-grade childhood cerebral astrocytoma NA BeFree Detail
0.120 mixed oligodendroglioma-astrocytoma After adjustment for IDH mutation, sex, and age, CDKN2A deletion was strongly as... BeFree,ORPHANET 25853694 Detail
0.122 anaplastic astrocytoma IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation ... BeFree,ORPHANET 25962792 Detail
0.120 protoplasmic astrocytoma NA ORPHANET Detail
0.120 gemistocytic astrocytoma NA ORPHANET Detail
0.120 fibrillary astrocytoma NA ORPHANET Detail
<0.001 pilocytic astrocytoma NA BeFree Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
0.001 intrahepatic cholangiocarcinoma In line with these findings, human ICC with IDH mutations are characterized by a... BeFree 25485496 Detail
0.002 Hematologic Neoplasms IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wi... BeFree 25599133 Detail
0.120 Anaplastic Oligoastrocytoma NA ORPHANET Detail
<0.001 Chromosome 8, trisomy NA BeFree 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
0.002 Malignant glioma NA BeFree Detail
0.001 Leukemogenesis Overall, our data suggest that IDH mutations are rare in the preleukemic disorde... BeFree 25486927 Detail
0.001 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
<0.001 Myeloid Leukemia, Chronic Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.003 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.003 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 bile duct 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 10, monosomy 10q NA BeFree Detail
<0.001 dedifferentiated chondrosarcoma However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 Cardiomyopathies NA BeFree Detail
0.120 chondroma NA BeFree,CTD_human Detail
<0.001 Intestinal adenocarcinoma NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Chronic myeloproliferative disorder We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 spindle cell hemangioma NA BeFree Detail
<0.001 Astrocytoma, low grade NA BeFree Detail
<0.001 adult astrocytic tumors NA BeFree Detail
<0.001 Conventional Chondrosarcoma However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recent... BeFree 25993236 Detail
<0.001 Vascular lesions NA BeFree Detail
<0.001 Primary Glioblastoma The large majority of lower-grade gliomas without an IDH mutation had genomic ab... BeFree 26061751 Detail
0.001 Secondary Glioblastoma NA BeFree Detail
<0.001 colorectal cancer The study of OxPhos-related genes revealed that an imbalance between the express... BeFree 25586680 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation 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 D-2-hydroxyglutaric aciduria NA BeFree Detail
0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
0.001 low grade glioma Surgically treated incidentally discovered low-grade gliomas are mostly IDH muta... BeFree 25674227 Detail
<0.001 liver carcinoma Our results for the first time suggest that IDH gene polymorphisms may serve as ... BeFree 25355558 Detail
<0.001 liver carcinoma We identified 7 SNPs in SDHC, SDHD, FH, and IDH2 genes to be significantly assoc... BeFree 25894340 Detail
0.121 combined D-2- and L-2-hydroxyglutaric aciduria NA BeFree,CTD_human Detail
0.120 Glioma susceptibility 1 NA UNIPROT Detail
<0.001 D-2-hydroxyglutaric aciduria 1 NA BeFree Detail
0.010 myelodysplastic syndrome We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree,GAD 25486927 Detail
0.002 Cytogenetically normal acute myeloid leukemia NA BeFree Detail
0.003 Primary myelofibrosis NA BeFree,GAD Detail
<0.001 aplastic anemia We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 atherosclerosis 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
0.023 Brain Neoplasms We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study... BeFree,GAD 24366912 Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Specific H3F3A driver mutations and IDH2 mutations were recently described in giant cell tumor of bo... DisGeNET Detail
Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and stud... DisGeNET Detail
NA DisGeNET Detail
The study of OxPhos-related genes revealed that an imbalance between the expression of IDH1 and IDH2... DisGeNET Detail
Mutant IDH is sufficient to initiate enchondromatosis in mice. 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
Although IDH2 mutations are largely confined to AITL, mutations of the other 3 can be found in other... DisGeNET Detail
NA DisGeNET Detail
Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophi... DisGeNET Detail
NA DisGeNET Detail
Firstly, by analyzing biomarkers associated with AML, to assist normal clinical tests, we confirmed ... DisGeNET Detail
Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA ... DisGeNET Detail
In conclusion, our study showed a high frequency of FLT3, RUNX1, and IDH mutations in AML-M0, sugges... DisGeNET Detail
Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been ide... DisGeNET Detail
These data provide a role for WT1 in regulating DNA hydroxymethylation and suggest that TET2 IDH1/ID... DisGeNET Detail
Overall, our data suggest that IDH mutations are rare in the preleukemic disorders and may not be th... DisGeNET Detail
IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wild-type cells to ABT... DisGeNET Detail
Here we report that WT1, a sequence-specific transcription factor, is mutated in a mutually exclusiv... DisGeNET Detail
IDH1 and IDH2 mutations may predict a favorable response to DNMTI in patients with AML. DisGeNET Detail
IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways in Acute Myeloid Leuk... DisGeNET Detail
Characteristics, clinical outcome, and prognostic significance of IDH mutations in AML. DisGeNET Detail
Biochemical, Epigenetic, and Metabolic Approaches to Target IDH Mutations in Acute Myeloid Leukemia. DisGeNET Detail
As the genetic landscape of AML has been mapped, other attractive targets for therapy have been disc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Although IDH2 mutations are largely confined to AITL, mutations of the other 3 can be found in other... 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
Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and IDH2 mutations in GC... DisGeNET Detail
Exome and the following prevalence sequencing identified mutations of the BAP1, ARID1A, IDH1 and IDH... 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
The role of mutant IDH in controlling hepatic differentiation state suggests the potential of newly ... DisGeNET Detail
NA DisGeNET Detail
After adjustment for IDH mutation, sex, and age, CDKN2A deletion was strongly associated with poorer... 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
NA DisGeNET Detail
NA DisGeNET Detail
In line with these findings, human ICC with IDH mutations are characterized by a hepatic progenitor ... 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
However, heterozygous mutations in isocitrate dehydrogenase (IDH) enzymes recently have been identif... DisGeNET Detail
NA 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
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
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
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
NA 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
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... 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
NA DisGeNET Detail
The large majority of lower-grade gliomas without an IDH mutation had genomic aberrations and clinic... DisGeNET Detail
NA DisGeNET Detail
The study of OxPhos-related genes revealed that an imbalance between the expression of IDH1 and IDH2... 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
Surgically treated incidentally discovered low-grade gliomas are mostly IDH mutated and 1p19q co-del... DisGeNET Detail
Our results for the first time suggest that IDH gene polymorphisms may serve as an independent progn... DisGeNET Detail
We identified 7 SNPs in SDHC, SDHD, FH, and IDH2 genes to be significantly associated with the RFS o... 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
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA 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
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
chr15:90,083,045-90,102,477
Variant Type
snv
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