Variant: rs387906889 

    present in Gene: LOC107985154;AFG3L2;TUBB6
    present in Chromosome: 18
    Position on Chromosome: 12340334
    Alleles of this Variant: T/A;C

rs387906889 in LOC107985154;AFG3L2;TUBB6 gene and SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE PMID 22022284 2011 Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.