Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg870His (p.R870H)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg869His (p.R869H) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg870His (p.R870H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg869His (p.R869H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Hypertrophic, Familial
- Source Database
- DisGeNET
- Description
- A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
- Pubmed
- 17703256
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.252244678808606
- Year of publication
- 2007
Drugs