Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Tyr1136= (p.Y1136=)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Tyr1136= (p.Y1136=) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.3408C>T (p.Tyr1136=) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 510294
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.3408C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002060666
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs