Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Arg502Trp (p.R502W)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Arg502Trp (p.R502W) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 51710
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.1504C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035406
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs