rs2516918361
This variant is located in the IFNGR2 gene.
▶ClinVar annotation
About IFNGR2
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
View all IFNGR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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