Variant (rsID / SNP)

rs753242273

rs753242273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 414,794. 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: 9:414794
Cytoband: 9p24.3
HGVS: NM_203447.4(DOCK8):c.3543A>G (p.Val1181=)
Allele change: Synonymous_V1181V

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.