Variant: rs121434352 

    present in Gene: UNC13D
    present in Chromosome: 17
    Position on Chromosome: 75840317
    Alleles of this Variant: G/A;C

rs121434352 in UNC13D gene and HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

PMID 21674762 2012 Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

PMID 14622600 2003 Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

PMID 24470399 2014 The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

PMID 21152410 2010 Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.