Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Gly159Asp (p.G159D)
(
ENST00000232975.8 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 ) - Associated Disease
- dilated cardiomyopathy 1Z
- Source Database
- ClinVar
- Description
- NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) AND Dilated cardiomyopathy 1Z
- ClinVar Allele ID
- 27480
- ClinVar RefSeq Alternation Syntax
- NM_003280.3:c.476G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013254
- ClinVar Disease
- Dilated cardiomyopathy 1Z
- Observed Origin Sample
- germline
- Pubmed
- 17977476
- Pubmed
- 29093449
- Pubmed
- 15542288
Drugs