Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Ser311Ter (p.S311*)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Ser311Ter (p.S311*) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 45277
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.932C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030293
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs