Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Asp1076Gly (p.D1076G)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val771Met (p.V771M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg654Cys (p.R654C) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg654Gly (p.R654G) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asp610His (p.D610H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asn515Ser (p.N515S) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Val321Leu (p.V321L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val321Met (p.V321M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp1076Gly (p.D1076G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val771Met (p.V771M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg654Cys (p.R654C) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg654Gly (p.R654G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610His (p.D610H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asn515Ser (p.N515S) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val321Leu (p.V321L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val321Met (p.V321M) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.251639662891051
- Year of publication
- NA
Drugs