TPM1 Chromosome 15

Tropomyosin 1
125 variants 125 Health Risk

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What This Gene Does
This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]
Gene Info
Gene Group
Tropomyosins
Locus Type
gene with protein product
Location
15q22.2
Ensembl
ENSG00000140416
Associated Conditions (23)
Hypertrophic cardiomyopathy 3
Dilated cardiomyopathy 1Y
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
TPM1-related disorder
Primary dilated cardiomyopathy
Uterine corpus endometrial carcinoma
Gastric cancer
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction 9
Hypertrophic cardiomyopathy 21
Long QT syndrome
Paroxysmal familial ventricular fibrillation
See cases
Left ventricular noncompaction cardiomyopathy
Pulmonary atresia with intact ventricular septum
Atrial septal defect 1
Catecholaminergic polymorphic ventricular tachycardia
+3 more conditions
Key Variants
RS1032357917
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Health Risk
RS104894505
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1060501866
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1131003
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
Health Risk
RS113759732
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1350935943
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Health Risk
RS139159081
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS141757680
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, TPM1-related disorder
Health Risk
RS143922069
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
Health Risk
RS144451403
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS149659674
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y
Health Risk
RS1555408679
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (125)
RSID Category Clinical Significance Conditions
RS1032357917 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS104894505 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1060501866 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1131003 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
RS113759732 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS1350935943 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
RS139159081 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS141757680 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, TPM1-related disorder
RS143922069 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS144451403 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS149659674 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y
RS1555408679 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS1555410433 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy 3
RS1596360976 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1Y, Cardiovascular phenotype
RS190305952 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS199476301 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS199476310 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS199476312 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS199476322 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy
RS200173919 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Cardiomyopathy
RS200257214 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
RS201813515 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TPM1-related disorder, Cardiomyopathy
RS202228866 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS2031445986 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS2031863455 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS2034911718 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Cardiovascular phenotype, Dilated cardiomyopathy 1Y
RS2035993567 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS2140937312 Health Risk Conflicting classifications of pathogenicity TPM1-related disorder, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y
RS2542412260 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS372214593 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS374459540 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, TPM1-related disorder
RS374970923 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS375043184 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS397515630 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS397516365 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS397516369 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction 9, Hypertrophic cardiomyopathy
RS397516372 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516374 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
RS397516375 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS397516377 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS397516378 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiomyopathy
RS397516382 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy
RS397516387 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y, Cardiovascular phenotype
RS397516389 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516391 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS397516490 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Paroxysmal familial ventricular fibrillation, Long QT syndrome
RS532254032 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiomyopathy
RS540306699 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS541046450 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS550286836 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
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