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Gene entry

APTX

aprataxin

Chromosome
9
Cytoband
9p21.1
Variants (rsID)
34

APTX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p21.1). Its official name is “aprataxin”. The reference table lists 34 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs34778324Benignsingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • rs141195622Conflicting interpretationssingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • rs141493373Conflicting interpretationssingle nucleotide variantCoenzyme Q10 deficiency, Oculomotor Apraxia Type|Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • rs571475924Conflicting interpretationssingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia|Coenzyme Q10 deficiency, Oculomotor Apraxia Type
  • rs104894103Pathogenicsingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • rs121908131Pathogenicsingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • rs144076460Uncertain significancesingle nucleotide variantAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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.