Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val655Ala (p.V655A)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Val655Ala (p.V655A) ( ENST00000689832.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- KIT V654A results in imatinib resistance in GIST patient-derived cell lines.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/249
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/73
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 16954519
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |