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Gene entry

ACTC1

actin alpha cardiac muscle 1

Chromosome
15
Cytoband
15q14
Variants (rsID)
29

ACTC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q14). Its official name is “actin alpha cardiac muscle 1”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

25 reference-table entries with clinical significance.

  • rs1370154Benignsingle nucleotide variantHypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs1370155Benignsingle nucleotide variantHypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs533021Benignsingle nucleotide variantDilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs121912673Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1R|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11|Atrial septal defect 5|Cardiomyopathy
  • rs193922681Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs397517059Conflicting interpretationssingle nucleotide variantAtrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs730880401Conflicting interpretationssingle nucleotide variantCardiomyopathy
  • rs730880402Conflicting interpretationssingle nucleotide variantAtrial septal defect 5|Hypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs730880404Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Atrial septal defect 5|Hypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs730880406Conflicting interpretationssingle nucleotide variantAtrial septal defect 5|Hypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs730880408Conflicting interpretationssingle nucleotide variantAtrial septal defect 5|Hypertrophic cardiomyopathy 11|Dilated cardiomyopathy 1R
  • rs397517065Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Inborn genetic diseases
  • rs730880388Likely pathogenicDeletionHypertrophic cardiomyopathy 11
  • rs730880410Likely pathogenicsingle nucleotide variant
  • rs767734253Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 11
  • rs121912674Pathogenicsingle nucleotide variantDilated cardiomyopathy 1R
  • rs121912675Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 11|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs121912677Pathogenicsingle nucleotide variantAtrial septal defect 5
  • rs193922680Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 11|Left ventricular noncompaction 4|Primary familial hypertrophic cardiomyopathy|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11|Cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1R
  • rs267606628Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 11
  • rs267606629Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 11|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs387906585PathogenicDeletionAtrial septal defect 5
  • rs121912676Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 11|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11
  • rs371940910Uncertain significancesingle nucleotide variant
  • rs863225303Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.