Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gln1259ArgfsTer72 (p.Q1259Rfs*72)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Gln1259ArgfsTer72 (p.Q1259Rfs*72) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) AND Cardiomyopathy
- ClinVar Allele ID
- 175138
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000151057
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs