Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 c.2308+1G>A
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 c.2308+1G>A ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- hypertrophic cardiomyopathy 4
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.2308+1G>A AND Hypertrophic cardiomyopathy 4
- ClinVar Allele ID
- 51780
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.2308+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-05-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009140
- ClinVar Disease
- Hypertrophic cardiomyopathy 4
- Observed Origin Sample
- germline
- Pubmed
- 9048664
Drugs