Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852508(C;T)
Make rs137852508(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71108336
GeneIL2RG
is asnp
is mentioned by
dbSNPrs137852508
ebirs137852508
HLIrs137852508
Exacrs137852508
Varsomers137852508
Maprs137852508
PheGenIrs137852508
hapmaprs137852508
1000 genomesrs137852508
hgdprs137852508
ensemblrs137852508
gopubmedrs137852508
geneviewrs137852508
scholarrs137852508
googlers137852508
pharmgkbrs137852508
gwascentralrs137852508
openSNPrs137852508
23andMers137852508
23andMe allrs137852508
SNP Nexus

SNPshotrs137852508
SNPdbers137852508
MSV3drs137852508
GWAS Ctlgrs137852508
Max Magnitude0
OMIM308380
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852508(T;T)
Alt rs137852508(T;T)
Reference rs137852508(C;C)
Significance Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene CXorf65 IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70328186G>A
CLNSRC ClinVar
CLNACC RCV000030058.2,


[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.