rs193922136
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922136(C;T) |
| Make rs193922136(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 136659390 |
| Gene | CD40LG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922136 |
| dbSNP (classic) | rs193922136 |
| ClinGen | rs193922136 |
| ebi | rs193922136 |
| HLI | rs193922136 |
| Exac | rs193922136 |
| Gnomad | rs193922136 |
| Varsome | rs193922136 |
| LitVar | rs193922136 |
| Map | rs193922136 |
| PheGenI | rs193922136 |
| Biobank | rs193922136 |
| 1000 genomes | rs193922136 |
| hgdp | rs193922136 |
| ensembl | rs193922136 |
| geneview | rs193922136 |
| scholar | rs193922136 |
| rs193922136 | |
| pharmgkb | rs193922136 |
| gwascentral | rs193922136 |
| openSNP | rs193922136 |
| 23andMe | rs193922136 |
| SNPshot | rs193922136 |
| SNPdbe | rs193922136 |
| MSV3d | rs193922136 |
| GWAS Ctlg | rs193922136 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922136(T;T) |
| Alt | rs193922136(T;T) |
| Reference | Rs193922136(C;C) |
| Significance | Pathogenic |
| Disease | Immunodeficiency with hyper IgM type 1 |
| Variation | info |
| Gene | CD40LG |
| CLNDBN | Immunodeficiency with hyper IgM type 1 |
| Reversed | 0 |
| HGVS | NC_000023.10:g.135741549C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029466.1, |
[PMID 17351] Assembly of multisubunit respiratory proteins.
[PMID 11037300] Primary immunodeficiency mutation databases.
[PMID 16509032
] Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.
[PMID 17307885] The structural basis of hyper IgM deficiency - CD40L mutations.
[PMID 18051214] Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital.
[PMID 19575287] Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
