Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gln969Ter (p.Q969*)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp745Gly (p.D745G) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Glu542Gln (p.E542Q) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Tyr434= (p.Y434=) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gln969Ter (p.Q969*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp745Gly (p.D745G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu542Gln (p.E542Q) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Tyr434= (p.Y434=) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu843ArgfsTer41 (p.E843Rfs*41)
MYBPC3 p.Glu793GlyfsTer40 (p.E793Gfs*40)
MYBPC3 p.Tyr614IlefsTer24 (p.Y614Ifs*24)
MYBPC3 p.Glu843ArgfsTer41 (p.E843Rfs*41)
MYBPC3 p.Glu793GlyfsTer40 (p.E793Gfs*40)
MYBPC3 p.Tyr614IlefsTer24 (p.Y614Ifs*24) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs