Variant: rs74315444 

    present in Gene: IFNGR2
    present in Chromosome: 21
    Position on Chromosome: 33426974
    Alleles of this Variant: C/A

rs74315444 in IFNGR2 gene and IMMUNODEFICIENCY 28 PMID 23963039 2013 Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

PMID 10608793 2000 Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.

PMID 22902943 2012 Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.

PMID 15924140 2005 Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.