Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V)
(
ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- GIST tumors harboring PDGFRA D842V mutation are more likely to be benign than malignant.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/99
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Negative
- Pubmed
- 15146165
Drugs