Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Glu542Gln (p.E542Q)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Glu542Gln (p.E542Q) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- hypertrophic cardiomyopathy 4
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) AND Hypertrophic cardiomyopathy 4
- ClinVar Allele ID
- 23647
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.1624G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009139
- ClinVar Disease
- Hypertrophic cardiomyopathy 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Observed Origin Sample
- paternal
- Pubmed
- 9048664
Drugs