Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Val606Met (p.V606M)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM.
- Pubmed
- 24566549
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0544602604195234
- Year of publication
- 2015
Drugs