Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu908Val (p.L908V)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Leu908Val (p.L908V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregate with HCM in a family who also had a MYH7 mutation (p.L907V).
- Pubmed
- 21642240
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162886610876929
- Year of publication
- 2011
Drugs