Variant: rs556445621 

    present in Gene: TWNK;MRPL43
    present in Chromosome: 10
    Position on Chromosome: 100989382
    Alleles of this Variant: G/A;T

rs556445621 in TWNK;MRPL43 gene and PERRAULT SYNDROME 5 PMID 25355836 2014 Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.