Variant: rs587777840

present in Gene: NLRC4 present in Chromosome: 2 Position on Chromosome: 32250855 Alleles of this Variant: T/A

rs587777840 in NLRC4 gene and AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS PMID 25217960 2014 Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

PMID 25217959 2014 An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.