Variant (rsID / SNP)

rs189680139

rs189680139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKDC. Location: chromosome 8, position 48,801,718. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRKDCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:48801718
Cytoband: 8q11.21
HGVS: NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=)
Allele change: Missense_P1379L

Associated conditions / phenotypes

Severe combined immunodeficiency due to DNA-PKcs deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.