Variant (rsID / SNP)

rs147287319

rs147287319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 334,292. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DOCK8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:334292
Cytoband: 9p24.3
HGVS: NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
Allele change: Missense_R398Q

Associated conditions / phenotypes

Combined immunodeficiency due to DOCK8 deficiency|Intellectual disability

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.