Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Asn515Ser (p.N515S)
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 p.Asn515Ser (p.N515S) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Left ventricular noncompaction 10
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) AND Left ventricular noncompaction 10
- ClinVar Allele ID
- 45264
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.1544A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2019-01-21
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000755680
- ClinVar Disease
- Left ventricular noncompaction 10
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs