rs137852508
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137852508(C;T) |
| Make rs137852508(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 71108336 |
| Gene | CXorf65, IL2RG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852508 |
| dbSNP (classic) | rs137852508 |
| ClinGen | rs137852508 |
| ebi | rs137852508 |
| HLI | rs137852508 |
| Exac | rs137852508 |
| Gnomad | rs137852508 |
| Varsome | rs137852508 |
| LitVar | rs137852508 |
| Map | rs137852508 |
| PheGenI | rs137852508 |
| Biobank | rs137852508 |
| 1000 genomes | rs137852508 |
| hgdp | rs137852508 |
| ensembl | rs137852508 |
| geneview | rs137852508 |
| scholar | rs137852508 |
| rs137852508 | |
| pharmgkb | rs137852508 |
| gwascentral | rs137852508 |
| openSNP | rs137852508 |
| 23andMe | rs137852508 |
| SNPshot | rs137852508 |
| SNPdbe | rs137852508 |
| MSV3d | rs137852508 |
| GWAS Ctlg | rs137852508 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852508(T;T) |
| Alt | rs137852508(T;T) |
| Reference | Rs137852508(C;C) |
| Significance | Pathogenic |
| Disease | X-linked severe combined immunodeficiency not provided |
| Variation | info |
| Gene | CXorf65 IL2RG |
| CLNDBN | X-linked severe combined immunodeficiency not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.70328186G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000030058.2, RCV000255488.2, |
[PMID 7557965] Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.
[PMID 8027558] Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.
[PMID 8462096] Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.
[PMID 8961626] IL2RGbase: a database of gamma c-chain defects causing human X-SCID.
[PMID 10784449] Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
[PMID 11961146] Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
