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Gene entry

PRKDC

protein kinase, DNA-activated, catalytic subunit

Chromosome
8
Cytoband
8q11.21
Variants (rsID)
37

PRKDC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q11.21). Its official name is “protein kinase, DNA-activated, catalytic subunit”. The reference table lists 37 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs189680139Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs55991828Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs6992074Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178033Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178040Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178070Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178106Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178208Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency|Malignant tumor of breast
  • rs8178231Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs8178232Benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency
  • rs188014107Likely benignsingle nucleotide variantSevere combined immunodeficiency due to DNA-PKcs deficiency

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.