Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A
(
ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 ) - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs.
- Pubmed
- 17566086
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.615647293561465
- Year of publication
- 2007
Drugs