Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.His651Arg (p.H651R)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.His651Arg (p.H651R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Familial cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1952A>G (p.His651Arg) AND Familial cardiomyopathy
- ClinVar Allele ID
- 136670
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1952A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148970
- ClinVar Disease
- Familial cardiomyopathy
- Observed Origin Sample
- not provided
Drugs