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.
