Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gln998Ter (p.Q998*)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Gln998Glu (p.Q998E) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asp770Asn (p.D770N) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gln998Ter (p.Q998*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gln998Glu (p.Q998E) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp770Asn (p.D770N) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 4
- Source Database
- DisGeNET
- Description
- Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
- Pubmed
- 15519027
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2004
Drugs