IL2RG, interleukin 2 receptor subunit gamma, 3561

N. diseases: 164; N. variants: 42
Disease: X-Linked Combined Immunodeficiency Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520644
rs1057520644
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 GeneticVariation CLINVAR Successful treatment for West syndrome with severe combined immunodeficiency. 24534054 2015
dbSNP: rs1057520644
rs1057520644
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 GeneticVariation CLINVAR Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). 11129345 2000
dbSNP: rs1057520644
rs1057520644
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 GeneticVariation CLINVAR Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. 8088810 1994