Variant: rs1399213398 

    present in Gene: SPART
    present in Chromosome: 13
    Position on Chromosome: 36331419
    Alleles of this Variant: T/C

rs1399213398 in SPART gene and Troyer syndrome PMID 12134148 2002 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

PMID 27539578 2017 Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

PMID 28875386 2017 Novel SPG20 mutation in an extended family with Troyer syndrome.