Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET p.His1112Pro (p.H1112P)
(
ENST00000318493.11,
ENST00000397752.8 )
MET p.His1112Arg (p.H1112R) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Tyr1248Cys (p.Y1248C) ( ENST00000318493.11, ENST00000397752.8 )
MET p.His1112Pro (p.H1112P) ( ENST00000318493.11, ENST00000397752.8 )
MET p.His1112Arg (p.H1112R) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Tyr1248Cys (p.Y1248C) ( ENST00000318493.11, ENST00000397752.8 ) - Associated Disease
- hereditary renal cell carcinoma
- Source Database
- DisGeNET
- Description
- Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose to hereditary renal cell carcinoma.
- Pubmed
- 12460923
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2002
Drugs