ACTC1 Chromosome 15

Actin alpha cardiac muscle 1
59 variants 59 Health Risk

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What This Gene Does
Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Actins
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000159251
Associated Conditions (13)
Atrial septal defect 5
Hypertrophic cardiomyopathy 11
Dilated cardiomyopathy 1R
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
ACTC1-related disorder
Primary familial hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Left ventricular noncompaction
Arthrogryposis
Inborn genetic diseases
Left ventricular noncompaction 4
Key Variants
RS1157097825
Conflicting classifications of pathogenicity
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Health Risk
RS121912673
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Health Risk
RS121912674
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Health Risk
RS121912676
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Health Risk
RS138812333
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Health Risk
RS139559367
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Health Risk
RS147406641
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Health Risk
RS1555418793
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, ACTC1-related disorder, Atrial septal defect 5
Health Risk
RS1555418921
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Health Risk
RS1595761302
Conflicting classifications of pathogenicity
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Health Risk
RS1595761333
Conflicting classifications of pathogenicity
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Health Risk
RS1891747424
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Health Risk
All Variants (59)
RSID Category Clinical Significance Conditions
RS1157097825 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS121912673 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS121912674 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS121912676 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS138812333 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS139559367 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS147406641 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS1555418793 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, ACTC1-related disorder, Atrial septal defect 5
RS1555418921 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS1595761302 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS1595761333 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS1891747424 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS189725849 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS193922681 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS2140430561 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS2140432284 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS370499568 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS397517057 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS397517059 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS397517071 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy 11
RS540240407 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS543030688 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Cardiovascular phenotype
RS566201991 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS574862389 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS587780846 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS59431308 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS727504323 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 11
RS727504399 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS730880388 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS730880401 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS730880404 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS730880406 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS730880410 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS749154513 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS750131288 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS750495564 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS756594449 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS767734253 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS868013105 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS886051085 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS113513162 Health Risk Likely pathogenic —
RS1555418785 Health Risk Likely pathogenic —
RS2140430645 Health Risk Likely pathogenic Atrial septal defect 5, Atrial septal defect 5
RS2140431879 Health Risk Likely pathogenic —
RS2140432240 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS2504175858 Health Risk Likely pathogenic Arthrogryposis, Arthrogryposis
RS2504177349 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
RS2504180886 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
RS397517065 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Inborn genetic diseases, Primary dilated cardiomyopathy
RS397517067 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
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