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Gene entry

CTNS

cystinosin, lysosomal cystine transporter

Chromosome
17
Cytoband
17p13.2
Variants (rsID)
17

CTNS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2). Its official name is “cystinosin, lysosomal cystine transporter”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs112317698Benignsingle nucleotide variantOcular cystinosis|Nephropathic cystinosis
  • rs189632527Benignsingle nucleotide variantOcular cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis
  • rs35086888Benignsingle nucleotide variantCystinosis, atypical nephropathic|Nephropathic cystinosis|Ocular cystinosis|Cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis
  • rs375970075Benignsingle nucleotide variantOcular cystinosis|Nephropathic cystinosis|Cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis
  • rs3826496Benignsingle nucleotide variantNephropathic cystinosis|Ocular cystinosis
  • rs113994205Pathogenicsingle nucleotide variantNephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis
  • rs113994206Pathogenicsingle nucleotide variantNephropathic cystinosis|Cystinosis|Ocular cystinosis|Nephropathic cystinosis|Juvenile nephropathic cystinosis
  • rs113994207Pathogenicsingle nucleotide variantOcular cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis
  • rs113994208Pathogenicsingle nucleotide variantNephropathic cystinosis|Cystinosis|Ocular cystinosis|Nephropathic cystinosis|Juvenile nephropathic cystinosis
  • rs121908127Pathogenicsingle nucleotide variantNephropathic cystinosis|Cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis
  • rs267606754Pathogenicsingle nucleotide variantCystinosis, atypical nephropathic|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis
  • rs760256854PathogenicMicrosatelliteNephropathic cystinosis|Cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis

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.