Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Leu29Gln (p.L29Q)
(
ENST00000232975.8 )
TNNC1 p.Leu29Gln (p.L29Q) ( ENST00000232975.8 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium.
- Pubmed
- 19506933
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00990139104839396
- Year of publication
- 2009
Drugs