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
RS727505023 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730881066 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730881068 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS730881069 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 7
RS730881070 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730881071 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS730881079 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730881081 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730881083 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 7
RS730881085 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, TNNI3-related disorder
RS730881086 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730881087 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7
RS746102505 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS746918706 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS75491697 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive
RS755862334 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS759922995 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
RS760978512 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, SUDDEN INFANT DEATH SYNDROME, Hypertrophic cardiomyopathy
RS772607683 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1FF
RS773513015 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS777702465 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS779144176 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
RS878853955 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Nonpapillary renal cell carcinoma
RS989588363 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS104894729 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive, 1
RS111406690 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1114167340 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive, 1
RS121917760 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive, 1
RS1248155083 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1568858210 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085712265 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS2147283171 Health Risk Likely pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS2147285332 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515498269 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515498567 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515504362 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516340 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516352 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397516356 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397516358 Health Risk Likely pathogenic —
RS727503499 Health Risk Likely pathogenic Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1FF
RS727503500 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504275 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype, TNNI3-related disorder
RS730881075 Health Risk Likely pathogenic —
RS730881076 Health Risk Likely pathogenic —
RS730881090 Health Risk Likely pathogenic —
RS750870502 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS104894724 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS104894725 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS104894728 Health Risk Pathogenic Cardiomyopathy, familial restrictive, 1
« Prev 1 2 3 Next »
Sign Up to Analyze Your DNA Log In