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
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes?
- Pubmed
- 18820258
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0048958852191096
- Year of publication
- 2008
Drugs