Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Pro873Leu (p.P873L)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Left ventricular noncompaction 10
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) AND Left ventricular noncompaction 10
- ClinVar Allele ID
- 75578
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.2618C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000054802
- ClinVar Disease
- Left ventricular noncompaction 10
- Observed Origin Sample
- germline
- Pubmed
- 21551322
Drugs