Variant (rsID / SNP)
rs8178070
rs8178070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKDC. Location: chromosome 8, position 48,815,186. Clinical significance in the table: Benign.
Reference-table entries
PRKDCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:48815186
- Cytoband
- 8q11.21
- HGVS
- NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser)
- Allele change
- Missense_N1071S
Associated conditions / phenotypes
Severe combined immunodeficiency due to DNA-PKcs deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.