Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Leu29Gln (p.L29Q)
(
ENST00000232975.8 )
TNNC1 p.Leu29Gln (p.L29Q) ( ENST00000232975.8 ) - Associated Disease
- dilated cardiomyopathy 1Z hypertrophic cardiomyopathy 13
- Source Database
- ClinVar
- Description
- NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND multiple conditions
- ClinVar Allele ID
- 27481
- ClinVar RefSeq Alternation Syntax
- NM_003280.3:c.86T>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000702748
- ClinVar Disease
- Dilated cardiomyopathy 1Z
- ClinVar Disease
- Hypertrophic cardiomyopathy 13
- Observed Origin Sample
- germline
Drugs