Variant: rs104894497 

    present in Gene: RAB27A
    present in Chromosome: 15
    Position on Chromosome: 55228693
    Alleles of this Variant: C/G;T

rs104894497 in RAB27A gene and GRISCELLI SYNDROME, TYPE 2 PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

PMID 26880764 2016 A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.

PMID 25544030 2015 Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).