Variant: rs144750655 

    present in Gene: PLEKHG5
    present in Chromosome: 1
    Position on Chromosome: 6474166
    Alleles of this Variant: T/C

rs144750655 in PLEKHG5 gene and CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C PMID 17564964 2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

PMID 23777631 2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

rs144750655 in PLEKHG5 gene and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 PMID 23777631 2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

PMID 17564964 2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.