Variant (rsID / SNP)

rs6992074

rs6992074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKDC. Location: chromosome 8, position 48,792,199. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRKDCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:48792199
Cytoband: 8q11.21
HGVS: NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=)
Allele change: Missense_F1696C

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.