chr2:209101803:> Detail (hg19) (IDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:209,101,803-209,116,275 |
| hg38 | chr2:208,237,079-208,251,551 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| brain glioma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 3 | 26061751 | Detail | |
| brain glioma | Olaparib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 28148839 | Detail |
| acute myeloid leukemia | Ivosidenib | A |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 29860938 | Detail |
| cholangiocarcinoma | Ivosidenib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 31300360 | Detail |
| chondrosarcoma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 4 | 31615936 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genomewide analysis of 250 low-grade adult gliomas revealed that patients with a wildtype IDH1/2 had... | CIViC Evidence | Detail |
| Mutations in isocitrate dehydrogenase 1 and 2, which result in overproduction of 2-hydroxyglutarate ... | CIViC Evidence | Detail |
| I phase 1 trial for patients with IDH1-mutated AML, patients who received ivosidenib (AG-120). The r... | CIViC Evidence | Detail |
| In a phase1 trial, 73 patients with cholangiocarcinoma harboring IDH1 mutations were treated with mu... | CIViC Evidence | Detail |
| In a retrospective study, the authors evaluated the association between IDH1/IDH2 mutation and progn... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr2:209,101,803-209,116,275
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000415913.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/645
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