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 |
|---|---|---|---|
| RS104894774 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1057521127 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS11575982 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS147340102 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1 |
| RS1569377829 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1569377865 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1603321840 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS200672738 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1 |
| RS2522117677 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522118643 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS368003929 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Inborn genetic diseases, Hyper-IgM syndrome type 1 |
| RS370353192 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS767889061 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Inborn genetic diseases |
| RS104894769 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1057518628 | Health Risk | Likely pathogenic | — |
| RS1057521128 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1477466218 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1569376229 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Common variable immunodeficiency, Hyper-IgM syndrome type 1 |
| RS1603319726 | Health Risk | Likely pathogenic | — |
| RS1603321154 | Health Risk | Likely pathogenic | — |
| RS193922134 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS193922136 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076113325 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2076126859 | Health Risk | Likely pathogenic | — |
| RS2076127133 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2148552406 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Nonpapillary renal cell carcinoma, Hyper-IgM syndrome type 1 |
| RS2148553773 | Health Risk | Likely pathogenic | — |
| RS2148553785 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522117925 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522117947 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS2522118239 | Health Risk | Likely pathogenic | — |
| RS2522118292 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS756468554 | Health Risk | Likely pathogenic | — |
| RS786205606 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS786205607 | Health Risk | Likely pathogenic | — |
| RS886039326 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894768 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894771 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894775 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894776 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894777 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS104894778 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1085307733 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1215852570 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1387503550 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS144855738 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |
| RS1556136635 | Health Risk | Pathogenic | — |
| RS1556139575 | Health Risk | Pathogenic | — |
| RS1556143529 | Health Risk | Pathogenic | Inborn genetic diseases, Hyper-IgM syndrome type 1, Inborn genetic diseases |
| RS1569376925 | Health Risk | Pathogenic | Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1 |