Variant (rsID / SNP)

rs193922135

rs193922135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD40LG. Clinical significance in the table: Pathogenic.

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Reference-table entries

CD40LGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
Allele change: Nonsense_R11X

Associated conditions / phenotypes

Hyper-IgM syndrome 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.