Variant: rs1555177629 

    present in Gene: KIF5A
    present in Chromosome: 12
    Position on Chromosome: 57567514
    Alleles of this Variant: C/T

rs1555177629 in KIF5A gene and Spastic Paraplegia PMID 21623771 2012 Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

PMID 18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

PMID 26543653 2015 Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).

PMID 25008398 2014 Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

rs1555177629 in KIF5A gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.