Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg719Trp (p.R719W)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg719Trp (p.R719W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 29143
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2155C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-09-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001194067
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs