Variant: rs1387003933 

    present in Gene: HIKESHI
    present in Chromosome: 11
    Position on Chromosome: 86306378
    Alleles of this Variant: A/G

rs1387003933 in HIKESHI gene and Movement Disorders PMID 28000699 2017 Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

PMID 25760597 2015 Structural and functional analysis of Hikeshi, a new nuclear transport receptor of Hsp70s.

PMID 26545878 2016 Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.