Variant: rs397514562 

    present in Gene: PLCG2
    present in Chromosome: 16
    Position on Chromosome: 81919549
    Alleles of this Variant: C/A

rs397514562 in PLCG2 gene and AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID 23000145 2012 A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.