TNNT2 Chromosome 1
Troponin T2, cardiac type
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What This Gene Does
This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Troponin complex subunits
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000118194
Associated Conditions (24)
Primary familial dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1D
familial restrictive
3
Hypertrophic cardiomyopathy 2
TNNT2-related disorder
Increased left ventricular wall thickness
Primary familial hypertrophic cardiomyopathy
Supraventricular tachycardia
Sudden cardiac death
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 4
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1DD
Left ventricular noncompaction cardiomyopathy
Myocarditis
Hypertrophic cardiomyopathy 7
+4 more conditions
Key Variants
RS111344408
Conflicting classifications of pathogenicity
Primary familial dilated cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS111692981
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy
Health Risk
RS113051005
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1D, familial restrictive
Health Risk
RS113471285
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy
Health Risk
RS113876817
Conflicting classifications of pathogenicity
TNNT2-related disorder, Cardiomyopathy, TNNT2-related disorder
Health Risk
RS1189945246
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy
Health Risk
RS121964860
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
Health Risk
RS1228403814
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive
Health Risk
RS1339922051
Conflicting classifications of pathogenicity
Cardiomyopathy, familial restrictive, 3
Health Risk
RS138757060
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive
Health Risk
RS140245123
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive
Health Risk
RS141837529
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy
Health Risk
All Variants (149)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111344408 | Health Risk | Conflicting classifications of pathogenicity | Primary familial dilated cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype |
| RS111692981 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS113051005 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1D, familial restrictive |
| RS113471285 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS113876817 | Health Risk | Conflicting classifications of pathogenicity | TNNT2-related disorder, Cardiomyopathy, TNNT2-related disorder |
| RS1189945246 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS121964860 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D |
| RS1228403814 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS1339922051 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, familial restrictive, 3 |
| RS138757060 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS140245123 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS141837529 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS148027842 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1D, familial restrictive |
| RS149240770 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS1553282545 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS1558225569 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS1558225837 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS1659270426 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS193922620 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS200754249 | Health Risk | Conflicting classifications of pathogenicity | Increased left ventricular wall thickness, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D |
| RS201753429 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac death, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |
| RS2102216749 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 2, familial restrictive |
| RS2102261144 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS2527016118 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D |
| RS367785431 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, familial restrictive, 3 |
| RS368658464 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS369181536 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS369759523 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D |
| RS370729174 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS372988386 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS373069229 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, familial restrictive, 3 |
| RS373092494 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS374443596 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, familial restrictive, 3 |
| RS375547142 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive |
| RS376303087 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, familial restrictive, 3 |
| RS377474357 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS397516447 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive |
| RS397516448 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1D |
| RS397516449 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS397516450 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS397516451 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1D, familial restrictive |
| RS397516452 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D |
| RS397516466 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS397516470 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D |
| RS397516475 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS397516476 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive |
| RS397516477 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy |
| RS397516480 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |
| RS397516482 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |
| RS397516484 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |