Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

SETX

senataxin

Chromosome
9
Cytoband
9q34.13
Variants (rsID)
39

SETX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.13). Its official name is “senataxin”. The reference table lists 39 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

21 reference-table entries with clinical significance.

  • rs1056899Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
  • rs112089123Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs11243731Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
  • rs116205032Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs116333061Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs150673589Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs17148873Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • rs36024203Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Hereditary spastic paraplegia
  • rs3739922Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
  • rs3739927Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • rs72765812Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
  • rs79740039Benignsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs117861188Conflicting interpretationssingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
  • rs145438764Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Hereditary spastic paraplegia
  • rs28941475Likely pathogenicsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Distal spinal muscular atrophy
  • rs121434379Pathogenicsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • rs28940290Pathogenicsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • rs29001584Pathogenicsingle nucleotide variantAmyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Distal spinal muscular atrophy
  • rs29001665Pathogenicsingle nucleotide variantSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • rs188247474Uncertain significancesingle nucleotide variant
  • rs267607044Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease

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.