Variant: rs121918357 

    present in Gene: SPG7
    present in Chromosome: 16
    Position on Chromosome: 89553932
    Alleles of this Variant: G/A;C

rs121918357 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

PMID 20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.

PMID 16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 17646629 2007 A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.