Variant (rsID / SNP)
rs148594123
rs148594123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD40LG. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CD40LGBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xq26.3
- HGVS
- NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
- Allele change
- Missense_G219R
Associated conditions / phenotypes
Hyper-IgM syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.