Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXON 11 MUTATION
KIT EXON 11 MUTATION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
KIT mutation is associated with larger, more invasive tumors, greater pathologic histology and older patients compared to tumors with wildtype KIT.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/225
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/66
Rating
2
Evidence Type
Diagnostic
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Positive
Pubmed
10485475
Drugs