Genetics University — Research, Education, Medical Genetics
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Gene entry

CTSK

cathepsin K

Chromosome
1
Cytoband
1q21.3
Variants (rsID)
4

CTSK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q21.3). Its official name is “cathepsin K”. The reference table lists 4 variants (rsID) for this gene.

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs868112062Conflicting interpretationssingle nucleotide variant
  • rs74315304Likely pathogenicsingle nucleotide variantPyknodysostosis
  • rs29001685Pathogenicsingle nucleotide variantPyknodysostosis
  • rs74315305Pathogenicsingle nucleotide variantPyknodysostosis

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.