Variant: rs587777713 

    present in Gene: FIG4;AK9
    present in Chromosome: 6
    Position on Chromosome: 109691485
    Alleles of this Variant: T/C

rs587777713 in FIG4;AK9 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 21655088 2011 Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.