Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg870His (p.R870H)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg870His (p.R870H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
- Source Database
- DisGeNET
- Description
- Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.
- Pubmed
- 10862102
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2000
Drugs