Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp817His (p.D817H)
(
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1,
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1 )
KIT p.Asp817Tyr (p.D817Y) ( ENST00000412167.7, ENST00000288135.6, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Asp817His (p.D817H) ( ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1 )
KIT p.Asp817Tyr (p.D817Y) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- Mastocytoma
- Source Database
- DisGeNET
- Description
- Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815.
- Pubmed
- 8962111
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 1996
Drugs