Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Ala833Thr (p.A833T)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Primary dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 51796
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.2497G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2014-09-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000157313
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs