Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Ala216Thr (p.A216T)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Ala216Thr (p.A216T) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 51949
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.646G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-12-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148666
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs