Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg858Leu (p.R858L)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Arg858Pro (p.R858P) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg858His (p.R858H) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg858Leu (p.R858L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg858Pro (p.R858P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg858His (p.R858H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
- Source Database
- DisGeNET
- Description
- Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
- Pubmed
- 15563892
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2005
Drugs