Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Met542Leu (p.M542L)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Met542Leu (p.M542L) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- M541L mutation was not associated with CML in caucasian patients, and was common among healthy controls (8.1%), in contrast to a previous study in a Japanese CML patient population in which M541L was strongly associated with CML disease.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/485
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/201
- Rating
- 4
- Evidence Type
- Diagnostic
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 16307017
Drugs