IL7R Chromosome 5

Interleukin 7 receptor
66 variants 66 Health Risk

Upload your DNA to see your personal genotypes for variants in IL7R.

What This Gene Does
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000168685
Associated Conditions (11)
Immunodeficiency 104
Inborn genetic diseases
Thymoma
Histiocytic medullary reticulosis
IL7R-related disorder
Severe combined immunodeficiency disease
Breast neoplasm
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Multiple sclerosis
susceptibility to
3
Key Variants
RS1057520828
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS111370546
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS137868226
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS143596606
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS148931962
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS193922644
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS199735993
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
RS200373233
Conflicting classifications of pathogenicity
Immunodeficiency 104, Thymoma, Immunodeficiency 104
Health Risk
RS200751605
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS200937717
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS201093124
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS201671392
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
All Variants (66)
RSID Category Clinical Significance Conditions
RS1057520828 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS111370546 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS137868226 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS143596606 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS148931962 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS193922644 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS199735993 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS200373233 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Thymoma, Immunodeficiency 104
RS200751605 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS200937717 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS201093124 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS201671392 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS202114203 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS2149904036 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS763041846 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS763937095 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS770237630 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS104893894 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1354581284 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS141698985 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Immunodeficiency 104, IL7R-related disorder
RS1448018291 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS193922643 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS193922645 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104, Severe combined immunodeficiency disease
RS200076125 Health Risk Likely pathogenic Immunodeficiency 104, Severe combined immunodeficiency disease, Immunodeficiency 104
RS766555082 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS786205572 Health Risk Likely pathogenic —
RS104893893 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1225034187 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1315265916 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1387689607 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1390410878 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1471668405 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1554066684 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1554067182 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1561421608 Health Risk Pathogenic —
RS1561424886 Health Risk Pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1580851910 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1717980926 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS1759660930 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1759788196 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1759969389 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS193922641 Health Risk Pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104, Severe combined immunodeficiency disease
RS199641706 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS200044623 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS200803157 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS201559094 Health Risk Pathogenic Immunodeficiency 104, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency, Immunodeficiency 104
RS202007062 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531540640 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531547862 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531570514 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
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