Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Gly159Asp (p.G159D)
(
ENST00000232975.8 )
TNNC1 p.Leu29Gln (p.L29Q) ( ENST00000232975.8 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 )
TNNC1 p.Leu29Gln (p.L29Q) ( ENST00000232975.8 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcomes with dilated (DCM) and hypertrophic cardiomyopathy (HCM), respectively.
- Pubmed
- 18820258
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00990139104839396
- Year of publication
- 2008
Drugs