Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Lys202Gln (p.K202Q)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Arg160Trp (p.R160W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Lys202Gln (p.K202Q) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg160Trp (p.R160W) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Cardiomyopathy, Familial Idiopathic
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.122367031978602
- Year of publication
- NA
Drugs