IFNGR1 Chromosome 6
Interferon gamma receptor 1
Upload your DNA to see your personal genotypes for variants in IFNGR1.
What This Gene Does
This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Interferon receptors"
Locus Type
gene with protein product
Location
6q23.3
Ensembl
ENSG00000027697
Associated Conditions (10)
Immunodeficiency 27A
Disseminated atypical mycobacterial infection
Interferon gamma receptor deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
IFN-gamma receptor 1 deficiency
Mycobacterium tuberculosis
susceptibility to
Helicobacter pylori infection
Hepatitis B virus
Inherited Immunodeficiency Diseases
Key Variants
RS11575936
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS146420583
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS1582634064
Conflicting classifications of pathogenicity
Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
Health Risk
RS201471898
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS41288979
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS55666220
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS886061127
Conflicting classifications of pathogenicity
Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A
Health Risk
RS1236009877
Likely pathogenic
Immunodeficiency 27A, Immunodeficiency 27A
Health Risk
RS1582637044
Likely pathogenic
Immunodeficiency 27A, Immunodeficiency 27A
Health Risk
RS1779262959
Likely pathogenic
Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
Health Risk
RS193922451
Likely pathogenic
Interferon gamma receptor deficiency, Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
Health Risk
RS2548232894
Likely pathogenic
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11575936 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS146420583 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS1582634064 | Health Risk | Conflicting classifications of pathogenicity | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS201471898 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS41288979 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS55666220 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS886061127 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 27A, Disseminated atypical mycobacterial infection, Immunodeficiency 27A |
| RS1236009877 | Health Risk | Likely pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS1582637044 | Health Risk | Likely pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS1779262959 | Health Risk | Likely pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS193922451 | Health Risk | Likely pathogenic | Interferon gamma receptor deficiency, Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS2548232894 | Health Risk | Likely pathogenic | — |
| RS2548247291 | Health Risk | Likely pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS369389737 | Health Risk | Likely pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS104893974 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS1160070099 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS121912715 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS1554227230 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS1582634237 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS1582635229 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS2114462231 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS2114462360 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS2548232789 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS2548235597 | Health Risk | Pathogenic | — |
| RS387906572 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS387906593 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS532749039 | Health Risk | Pathogenic | Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection |
| RS587776853 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS587776854 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS587776855 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS587776856 | Health Risk | Pathogenic | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, IFN-gamma receptor 1 deficiency, Disseminated atypical mycobacterial infection |
| RS587776857 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS587776859 | Health Risk | Pathogenic | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| RS587776860 | Health Risk | Pathogenic | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| RS749956849 | Health Risk | Pathogenic | Immunodeficiency 27A, Inherited Immunodeficiency Diseases, Disseminated atypical mycobacterial infection |
| RS753213766 | Health Risk | Pathogenic | Immunodeficiency 27A, Immunodeficiency 27A |
| RS104893973 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 27A, Mycobacterium tuberculosis, susceptibility to |