Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Ala8Val (p.A8V)
(
ENST00000232975.8 )
TNNC1 p.Ala8Val (p.A8V) ( ENST00000232975.8 ) - Associated Disease
- hypertrophic cardiomyopathy 13
- Source Database
- ClinVar
- Description
- NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND Hypertrophic cardiomyopathy 13
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 27482
- ClinVar RefSeq Alternation Syntax
- NM_003280.3:c.23C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013256
- ClinVar Disease
- Hypertrophic cardiomyopathy 13
- Observed Origin Sample
- germline
- Pubmed
- 18572189
Drugs