Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg369Pro (p.R369P)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Arg369Gln (p.R369Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg369Pro (p.R369P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg369Gln (p.R369Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- congestive heart failure
- Source Database
- DisGeNET
- Description
- A second pediatric patient presented with heart failure and was found to carry a de novo MYH7 R369Q mutation.
- Pubmed
- 20031619
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs