Variant: rs374343844 

    present in Gene: LBR
    present in Chromosome: 1
    Position on Chromosome: 225404451
    Alleles of this Variant: T/A;C

rs374343844 in LBR gene and PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PMID 25348816 2015 An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

PMID 23824842 2013 Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.