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 Tumors
- Source Database
- DisGeNET
- Description
- PDGFRA exon 18 mutations (total 86 cases) were common in epithelioid GISTs and most commonly represented a D842V point mutation; none of these was prognostically significant.
- Pubmed
- 15613856
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.615647293561465
- Year of publication
- 2005
Drugs