Variant (rsID / SNP)

rs104894773

rs104894773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD40LG. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

CD40LGOther

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_000074.3(CD40LG):c.384T>A (p.Ser128Arg)
Allele change: Missense_S128R

Associated conditions / phenotypes

Cd40 Ligand Deficiency|Immunodeficiency with Hyper-Igm, Type 1

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.