Variant: rs398123012 

    present in Gene: GBA2
    present in Chromosome: 9
    Position on Chromosome: 35738811
    Alleles of this Variant: G/A

rs398123012 in GBA2 gene and SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE PMID 30308956 2018 Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

PMID 26220345 2015 Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

PMID 23332916 2013 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

PMID 23332917 2013 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

PMID 24252062 2014 A novel GBA2 gene missense mutation in spastic ataxia.

rs398123012 in GBA2 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.