rs1354581284

This variant is located in the IL7R gene.

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ClinVar annotation

Likely Pathogenic★★★★

2 submitters1 publication

Immunodeficiency 104

About IL7R

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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