Variant: rs377357931 

    present in Gene: FIG4
    present in Chromosome: 6
    Position on Chromosome: 109760253
    Alleles of this Variant: C/T

rs377357931 in FIG4 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.

rs377357931 in FIG4 gene and Muscle hypotonia PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 24598713 2014 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

PMID 25617005 2015 Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

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 8411078 1993 Congenital heart malformation in Yunis-Varón syndrome.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

PMID 19118816 2009 Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.