Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Ala797Thr (p.A797T)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Glu499Lys (p.E499K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Trp (p.R403W) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Ala797Thr (p.A797T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu499Lys (p.E499K) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg403Trp (p.R403W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
- Source Database
- DisGeNET
- Description
- The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
- Pubmed
- 10521296
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 1999
Drugs