Variant (rsID / SNP)

rs193922134

rs193922134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD40LG. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CD40LGLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Cytoband: Xq26.3
HGVS: NM_000074.3(CD40LG):c.189del (p.Phe63fs)

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.