TNNI3 Chromosome 19

Troponin I3, cardiac type
128 variants 128 Health Risk

Upload your DNA to see your personal genotypes for variants in TNNI3.

What This Gene Does
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Troponin complex subunits
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000129991
Associated Conditions (22)
Dilated cardiomyopathy 2A
Cardiomyopathy
familial restrictive
1
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Primary familial hypertrophic cardiomyopathy
Familial restrictive cardiomyopathy
TNNI3-related disorder
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction cardiomyopathy
Familial cancer of breast
Restrictive cardiomyopathy
Primary familial dilated cardiomyopathy
Myocarditis
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
+2 more conditions
Key Variants
RS1057520417
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive
Health Risk
RS1057521530
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1085308019
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1162696593
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1171407156
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1178267975
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1210217999
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS121917761
Conflicting classifications of pathogenicity
Cardiomyopathy, familial restrictive, 1
Health Risk
RS12973773
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy
Health Risk
RS1317507392
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1351385449
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1357844466
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF
Health Risk
All Variants (128)
RSID Category Clinical Significance Conditions
RS1057520417 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive
RS1057521530 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1085308019 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1162696593 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1171407156 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1178267975 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1210217999 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS121917761 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
RS12973773 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy
RS1317507392 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1351385449 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1357844466 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF
RS139158921 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1393946566 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS1555863715 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1568858517 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1568858567 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1599907512 Health Risk Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy, Familial restrictive cardiomyopathy
RS192630178 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Cardiomyopathy
RS193922409 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS202159627 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
RS2085696801 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2085712121 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS2085728001 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085732359 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085739021 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS2085744080 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2288530 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
RS2515498227 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, TNNI3-related disorder, Hypertrophic cardiomyopathy
RS367809676 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
RS370714315 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS3729711 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS3729712 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS3729841 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS374618872 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS375447438 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy
RS377258542 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
RS377421427 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS397516342 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS397516348 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS397516351 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS397516354 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A
RS397516359 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Cardiomyopathy, Hypertrophic cardiomyopathy
RS587780967 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
RS7252610 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS727503504 Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503506 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS727503507 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504367 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504872 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy
1 2 3 Next »
Sign Up to Analyze Your DNA Log In