Hyper-IgM Syndrome Type 1(Hyper IgM immunodeficiency, X-linked) Explore Disorder's Alias
An X-linked recessive mode(s) within the Immune disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CD40LG/959 | CD40 ligand | Xq26.3 | ChrX, NC_000023.11 (136648158..136660390) |
12233 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities