Variant (rsID / SNP)

rs104894764

rs104894764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XIAP. Clinical significance in the table: Pathogenic.

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Reference-table entries

XIAPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_001167.4(XIAP):c.352G>T (p.Glu118Ter)
Allele change: Nonsense_E118X

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.