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Variant (rsID / SNP)

rs116920018

DOCK8

rs116920018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 420,579. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DOCK8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:420579
Cytoband
9p24.3
HGVS
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
Allele change
Missense_Y1340C

Associated conditions / phenotypes

Combined immunodeficiency due to DOCK8 deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.