Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132Cys (p.R132C)
(
ENST00000345146.7,
ENST00000446179.5,
ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- IDH1 R132 mutation is associated with patients of older age, high platelet count during diagnosis, cytogenic normalcy and NPM1 mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/224
- Gene URL
- https://civic.genome.wustl.edu/links/genes/26
- Variant URL
- https://civic.genome.wustl.edu/links/variants/59
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 20538800
Drugs