Variant: rs770601673 

    present in Gene: RAB27A
    present in Chromosome: 15
    Position on Chromosome: 55234786
    Alleles of this Variant: C/-

rs770601673 in RAB27A gene and Hypopigmentation-immunodeficiency disease PMID 18350256 2008 Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

PMID 19953648 2010 Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

PMID 16551969 2006 Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

PMID 26684649 2015 Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

PMID 10835631 2000 Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.