Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg172Lys (p.R172K)
(
ENST00000540499.2,
ENST00000559482.5,
ENST00000330062.8 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- myelodysplastic syndrome
- Source Database
- CIViC Evidence
- Description
- In patients suffering from MDS, the presence of IDH2 mutations such as R172K do not confer prognostic value (overall survival).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/332
- Gene URL
- https://civic.genome.wustl.edu/links/genes/27
- Variant URL
- https://civic.genome.wustl.edu/links/variants/63
- Rating
- 2
- Evidence Type
- Prognostic
- Disease
- Myelodysplastic Syndrome
- Evidence Direction
- Does Not Support
- Evidence Level
- B
- Clinical Significance
- N/A
- Pubmed
- 21997850
Drugs