Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu1793Pro (p.L1793P)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Leu1793Pro (p.L1793P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- MYOPATHY, MYOSIN STORAGE (disorder)
- Source Database
- DisGeNET
- Description
- Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
- Pubmed
- 19138847
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.362442976848723
- Year of publication
- 2009
Drugs