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Gene entry

CTSD

cathepsin D

Chromosome
11
Cytoband
11p15.5
Variants (rsID)
12

CTSD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.5). Its official name is “cathepsin D”. The reference table lists 12 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs138733377Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 10|Seizure
  • rs141523461Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis
  • rs149019571Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis
  • rs17571Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Seizure|Neuronal ceroid lipofuscinosis
  • rs201434721Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 10
  • rs557342549Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis
  • rs139154882Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs147800688Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis
  • rs369602025Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis
  • rs587780917Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 10
  • rs756112449Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 10
  • rs779278368Conflicting interpretationssingle nucleotide variantSeizure|Neuronal ceroid lipofuscinosis

Public references

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