Gene entry
CD40LG
CD40 ligand
- Chromosome
- X
- Cytoband
- Xq26.3
- Variants (rsID)
- 20
CD40LG is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.3). Its official name is “CD40 ligand”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs148594123Benignsingle nucleotide variantHyper-IgM syndrome type 1
- rs104894774Likely pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs104894777Likely pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs193922134Likely pathogenicDeletionHyper-IgM syndrome type 1
- rs104894772Othersingle nucleotide variant
- rs104894773Othersingle nucleotide variantCd40 Ligand Deficiency|Immunodeficiency with Hyper-Igm, Type 1
- rs104894768Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs104894769Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs104894775Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs104894778Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs193922135Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1
- rs193922136Pathogenicsingle nucleotide variantHyper-IgM syndrome type 1|Hyperimmunoglobulin M syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.