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Gene entry

ACAT1

acetyl-CoA acetyltransferase 1

Chromosome
11
Cytoband
11q22.3
Variants (rsID)
14

ACAT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q22.3). Its official name is “acetyl-CoA acetyltransferase 1”. The reference table lists 14 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs3741050Benignsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs120074141Pathogenicsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs120074144Pathogenicsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs120074146Pathogenicsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs148639841Pathogenicsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs199524907Pathogenicsingle nucleotide variantDeficiency of acetyl-CoA acetyltransferase
  • rs727503795PathogenicDeletionDeficiency of acetyl-CoA acetyltransferase

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.