CD40LG Chromosome X
CD40 ligand
Upload your DNA to see your personal genotypes for variants in CD40LG.
What This Gene Does
The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor superfamily"
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000102245
Associated Conditions (5)
Hyper-IgM syndrome type 1
Inborn genetic diseases
Common variable immunodeficiency
Nonpapillary renal cell carcinoma
Hyperimmunoglobulin M syndrome
Key Variants
RS104894774
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS1057521127
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS11575982
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS147340102
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1
Health Risk
RS1569377829
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS1569377865
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS1603321840
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS200672738
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1
Health Risk
RS2522117677
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS2522118643
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
RS368003929
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1
Health Risk
RS370353192
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569376930 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1569377237 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1603321138 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1603321834 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS193922135 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076095044 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076118841 | Health Risk | Pathogenic | Hyperimmunoglobulin M syndrome, Hyperimmunoglobulin M syndrome |
| RS2076119100 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076119189 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076126996 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076127075 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076127276 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076127875 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148550523 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148550585 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148551084 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148551102 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148552377 | Health Risk | Pathogenic | — |
| RS2148552379 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148552407 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148552941 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148553684 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148553738 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522103731 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522103865 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522103909 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522106375 | Health Risk | Pathogenic | — |
| RS2522106494 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522106594 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522111616 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522111700 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522114205 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522117728 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522117745 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522117875 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522118161 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522118504 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522118648 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS368157256 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS886041747 | Health Risk | Pathogenic | — |
| RS1603321148 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1603321772 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148552412 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |