Variant (rsID / SNP)

rs182340753

rs182340753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XIAP. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

XIAPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)
Allele change: Missense_A321G

Associated conditions / phenotypes

X-linked lymphoproliferative disease due to XIAP 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.