Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg403Leu (p.R403L)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg403Gln (p.R403Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Leu (p.R403L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Gln (p.R403Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM.
- Pubmed
- 15386449
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162886610876929
- Year of publication
- 2004
Drugs