Variant (rsID / SNP)
rs8178040
rs8178040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKDC. Location: chromosome 8, position 48,842,425. Clinical significance in the table: Benign.
Reference-table entries
PRKDCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:48842425
- Cytoband
- 8q11.21
- HGVS
- NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met)
- Allele change
- Missense_I680M
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.