chr15:90087472:C>T Detail (hg38) (IDH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:90,630,704-90,630,704 View the variant detail on this assembly version. |
hg38 | chr15:90,087,472-90,087,472 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002168.3:c.782G>A | NP_002159.2:p.Arg261His |
NM_001289910.1:c.626G>A | NP_001276839.1:p.Arg209His | |
NM_001290114.1:c.626G>A | NP_001277043.1:p.Arg209His |
Summary
MGeND
Clinical significance | |
Variant entry | |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-10-17 | criteria provided, single submitter | not specified |
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Detail |
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2024-01-06 | criteria provided, multiple submitters, no conflicts | D-2-hydroxyglutaric aciduria 2 |
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Detail |
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2024-04-01 | criteria provided, single submitter | not provided |
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Detail |
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2020-02-04 | criteria provided, single submitter | IDH2-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
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>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>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>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>T encoding an R132C ... | BeFree | 22057234 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND not specified | ClinVar | Detail |
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND D-2-hydroxyglutaric aciduria 2 | ClinVar | Detail |
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND not provided | ClinVar | Detail |
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND IDH2-related disorder | ClinVar | 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>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>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>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>T encoding an R132C substitution and c.3... | 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
- rs118101777 dbSNP
- Genome
- hg38
- Position
- chr15:90,087,472-90,087,472
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121408
- Allele Counts in All Race (ExAC)
- 242
- Heterozygous Counts in All Race (ExAC)
- 234
- Homozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 0.001993278861360042
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