Variant (rsID / SNP)

rs3780338

rs3780338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK8. Location: chromosome 9, position 464,920. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DOCK8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:464920
Cytoband: 9p24.3
HGVS: NM_203447.4(DOCK8):c.*701G>A
Allele change: Silent

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.