Variant (rsID / SNP)

rs17673268

rs17673268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 368,128. Clinical significance in the table: Benign.

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Reference-table entries

DOCK8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:368128
Cytoband: 9p24.3
HGVS: NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val)
Allele change: Missense_A597V

Associated conditions / phenotypes

Combined immunodeficiency due to DOCK8 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.