Variant: rs145192716 

    present in Gene: MECR
    present in Chromosome: 1
    Position on Chromosome: 29200574
    Alleles of this Variant: G/A

rs145192716 in MECR gene and DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES PMID 27817865 2016 MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.