TNNC1 Chromosome 3
Troponin C1, slow skeletal and cardiac type
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What This Gene Does
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"EF-hand domain containing|Troponin complex subunits"
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000114854
Associated Conditions (6)
Dilated cardiomyopathy 1Z
Hypertrophic cardiomyopathy 13
Cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy
TNNC1-related disorder
Key Variants
RS1057521396
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
Health Risk
RS140287760
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
Health Risk
RS141505676
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiomyopathy
Health Risk
RS149428762
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype
Health Risk
RS1706318738
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
Health Risk
RS1706370933
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
Health Risk
RS202000367
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiovascular phenotype
Health Risk
RS2471444636
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Cardiovascular phenotype, Dilated cardiomyopathy 1Z
Health Risk
RS370426309
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype
Health Risk
RS397516845
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype
Health Risk
RS397516849
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype
Health Risk
RS41292360
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057521396 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS140287760 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS141505676 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiomyopathy |
| RS149428762 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype |
| RS1706318738 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |
| RS1706370933 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS202000367 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiovascular phenotype |
| RS2471444636 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Cardiovascular phenotype, Dilated cardiomyopathy 1Z |
| RS370426309 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype |
| RS397516845 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype |
| RS397516849 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype |
| RS41292360 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |
| RS727503495 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS727505237 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |
| RS730881058 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |
| RS730881061 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Hypertrophic cardiomyopathy |
| RS730881065 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiovascular phenotype |
| RS747842576 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiomyopathy |
| RS750021293 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS750647348 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy |
| RS756483143 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiovascular phenotype |
| RS770331194 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS104893823 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z |
| RS199523612 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS730881059 | Health Risk | Likely pathogenic | — |
| RS730881063 | Health Risk | Likely pathogenic | — |
| RS876661393 | Health Risk | Likely pathogenic | — |
| RS886039440 | Health Risk | Likely pathogenic | — |
| RS111972756 | Health Risk | Pathogenic | — |
| RS1436187022 | Health Risk | Pathogenic | Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z |
| RS1706370994 | Health Risk | Pathogenic | Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z |
| RS2471444684 | Health Risk | Pathogenic | Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z |
| RS397514616 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |
| RS267607125 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 13, Cardiovascular phenotype, Hypertrophic cardiomyopathy |