Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Ala2Val (p.A2V)
(
ENST00000344887.10,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1 )
TNNI3 p.Ala2Val (p.A2V) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 ) - Associated Disease
- dilated cardiomyopathy 2A
- Source Database
- ClinVar
- Description
- NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Dilated cardiomyopathy 2A
- ClinVar Allele ID
- 52567
- ClinVar RefSeq Alternation Syntax
- NM_000363.5:c.5C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-08-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013240
- ClinVar Disease
- Dilated cardiomyopathy 2A
- Observed Origin Sample
- germline
- Pubmed
- 15070570
- Pubmed
- 19590045
Drugs