Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Ala31Ser (p.A31S)
(
ENST00000232975.8 )
TNNC1 p.Ala31Ser (p.A31S) ( ENST00000232975.8 ) - Associated Disease
- hypertrophic cardiomyopathy 13 dilated cardiomyopathy 1Z
- Source Database
- ClinVar
- Description
- NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) AND multiple conditions
- ClinVar Allele ID
- 48431
- ClinVar RefSeq Alternation Syntax
- NM_003280.3:c.91G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003764652
- ClinVar Disease
- Dilated cardiomyopathy 1Z
- ClinVar Disease
- Hypertrophic cardiomyopathy 13
- Observed Origin Sample
- germline
Drugs