Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp817Val (p.D817V)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asp817Val (p.D817V) ( ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- systemic mastocytosis
- Source Database
- CIViC Evidence
- Description
- The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patients with wildtype SRSF2 (N=40), ASXL1(N=50), or RUNX1 (N=54).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1726
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/65
- Rating
- 4
- Evidence Type
- Prognostic
- Disease
- Systemic Mastocytosis
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 26464169
Drugs