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Gene entry

ACTA1

actin alpha 1, skeletal muscle

Chromosome
1
Cytoband
1q42.13
Variants (rsID)
6

ACTA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.13). Its official name is “actin alpha 1, skeletal muscle”. The reference table lists 6 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs121909530Conflicting interpretationssingle nucleotide variantCongenital myopathy with fiber type disproportion|Actin accumulation myopathy
  • rs267606627Othersingle nucleotide variant
  • rs121909529Pathogenicsingle nucleotide variantCongenital myopathy with fiber type disproportion|Actin accumulation myopathy
  • rs121909531Pathogenicsingle nucleotide variantCongenital myopathy with fiber type disproportion
  • rs869312739Pathogenicsingle nucleotide variantProgressive scapulohumeroperoneal distal myopathy|Actin accumulation myopathy

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.