Variant (rsID / SNP)

rs151094543

rs151094543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 396,872. 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: 9:396872
Cytoband: 9p24.3
HGVS: NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
Allele change: Missense_I1020V

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.