Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Pro873His (p.P873H)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- hypertrophic cardiomyopathy 4
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) AND Hypertrophic cardiomyopathy 4
- ClinVar Allele ID
- 39099
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.2618C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023054
- ClinVar Disease
- Hypertrophic cardiomyopathy 4
- Observed Origin Sample
- germline
- Pubmed
- 16199542
Drugs