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Gene entry

ACO2

aconitase 2

Chromosome
22
Cytoband
22q13.2
Variants (rsID)
13

ACO2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.2). Its official name is “aconitase 2”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs141772938Conflicting interpretationssingle nucleotide variantOptic atrophy 9|Infantile cerebellar-retinal degeneration|Optic atrophy 9|Infantile cerebellar-retinal degeneration|OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE
  • rs375761361Pathogenicsingle nucleotide variantInfantile cerebellar-retinal degeneration
  • rs141878785Uncertain significancesingle nucleotide variantInfantile cerebellar-retinal degeneration|Optic atrophy 9|Retinal dystrophy|Optic atrophy 9|Infantile cerebellar-retinal degeneration

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.