Variant: rs781908532 

    present in Gene: SLC25A1
    present in Chromosome: 22
    Position on Chromosome: 19176585
    Alleles of this Variant: C/A;T

rs781908532 in SLC25A1 gene and MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC PMID 29031613 2018 Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

PMID 26870663 2019 Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.