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Gene entry

CTSA

cathepsin A

Chromosome
20
Cytoband
20q13.12
Variants (rsID)
6

CTSA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.12). Its official name is “cathepsin A”. The reference table lists 6 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs137854540Likely pathogenicsingle nucleotide variantGalactosialidosis, late infantile|Combined deficiency of sialidase AND beta galactosidase
  • rs137854544Pathogenicsingle nucleotide variantCombined deficiency of sialidase AND beta galactosidase|Galactosialidosis, late infantile
  • rs137854547Pathogenicsingle nucleotide variantGalactosialidosis, early infantile
  • rs786200859Pathogenicsingle nucleotide variantGalactosialidosis, adult|Combined deficiency of sialidase AND beta galactosidase

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.