Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gly5Arg (p.G5R)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Gly5Arg (p.G5R) ( ENST00000399249.6, ENST00000545968.6 ) - Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) AND Left ventricular hypertrophy
- ClinVar Allele ID
- 171147
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.13G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-03-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000234987
- Observed Origin Sample
- unknown
Drugs