Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg719Trp (p.R719W)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Trp (p.R719W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highlights the remarkable genetic heterogeneity of HCM, which provides important information for genetic counseling, accurate diagnosis, prognostic evaluation, and appropriate clinical management.
- Pubmed
- 19645038
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162886610876929
- Year of publication
- 2009
Drugs