Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg249Gln (p.R249Q)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg249Gln (p.R249Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Hypertrophic, Familial
- Source Database
- DisGeNET
- Description
- Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previously with familial hypertrophic cardiomyopathy, sudden death, and impaired β-myosin heavy chain (MHC-β) actin-translocating and actin-activated ATPase (adenosine triphosphatase) activity.
- Pubmed
- 24298987
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.252244678808606
- Year of publication
- 2014
Drugs