Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Leu577Pro (p.L577P)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Leu577Pro (p.L577P) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- Thymoma, type C
- Source Database
- DisGeNET
- Description
- The mutational analysis of KIT revealed only a missense mutation (L576P) in exon 11 of one thymic carcinoma.
- Pubmed
- 18448188
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2008
Drugs