Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gly490Arg (p.G490R)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Gly490Arg (p.G490R) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Cardiomyopathy, dilated, 1MM
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) AND Cardiomyopathy, dilated, 1MM
- ClinVar Allele ID
- 51706
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.1468G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002508761
- ClinVar Disease
- Cardiomyopathy, dilated, 1MM
- Observed Origin Sample
- germline
- Pubmed
- 18403758
- Pubmed
- 20215591
- Pubmed
- 15519027
- Pubmed
- 21551322
Drugs