PRKDC Chromosome 8
Protein kinase, DNA-activated, catalytic subunit
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What This Gene Does
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|Phosphatidylinositol 3-kinase-related kinase family"
Locus Type
gene with protein product
Location
8q11.21
Ensembl
ENSG00000253729
Associated Conditions (3)
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC-related disorder
Immunodeficiency 26 without neurologic abnormalities
Key Variants
RS1037182844
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1308530637
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1438382972
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1463023336
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1490966994
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS191531119
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS199731143
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200126714
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200729621
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200774352
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS201214138
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS201231274
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1037182844 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS1308530637 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS1438382972 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS1463023336 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS1490966994 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS191531119 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS199731143 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS200126714 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS200729621 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS200774352 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS201214138 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS201231274 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS201726098 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS202100944 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS202110076 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS2088597912 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS2089318466 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS2551869054 | Health Risk | Conflicting classifications of pathogenicity | PRKDC-related disorder, PRKDC-related disorder |
| RS367584015 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS368949953 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS372117480 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS372587440 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS373088662 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS373126381 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS374237444 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS374403400 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS375277772 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS376211703 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS533171314 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS545199062 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS546088914 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS546905091 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS56080897 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS746024122 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS761784130 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS763035246 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS764358542 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS765160098 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS766026632 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS768430430 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS769242222 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS772734060 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS773506987 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS777811841 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS778363266 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS778561823 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS780022870 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS879333781 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS977593814 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS587777685 | Health Risk | Pathogenic | Immunodeficiency 26 without neurologic abnormalities, Severe combined immunodeficiency due to DNA-PKcs deficiency, Immunodeficiency 26 without neurologic abnormalities |