Variant: rs121908287 

    present in Gene: FIG4
    present in Chromosome: 6
    Position on Chromosome: 109715133
    Alleles of this Variant: T/C

rs121908287 in FIG4 gene and AMYOTROPHIC LATERAL SCLEROSIS 11 PMID 28051077 2017 FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

rs121908287 in FIG4 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J PMID 24878229 2014 Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 23489662 2013 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

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

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 18556664 2008 Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

PMID 20630877 2010 We further demonstrate that mutant Sac3, harboring the pathogenic Ile-to-Thr substitution at position 41 found in patients with CMT4J disorder, is similar to Sac3(WT) with regard to PtdIns(3,5)P(2)-hydrolyzing activity, association with ArPIKfyve, or rapid proteasome-dependent clearance.

rs121908287 in FIG4 gene and Charcot-Marie-Tooth disease type 4 PMID 24878229 2014 Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 23489662 2013 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

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

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 18556664 2008 Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.