Variant (rsID / SNP)

rs188014107

rs188014107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKDC. Location: chromosome 8, position 48,775,093. Clinical significance in the table: Likely benign.

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Reference-table entries

PRKDCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:48775093
Cytoband: 8q11.21
HGVS: NM_006904.7(PRKDC):c.5760C>T (p.Tyr1920=)
Allele change: Missense_T1920M

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.