Variant: rs672601332 

    present in Gene: EXOSC3;TRMT10B
    present in Chromosome: 9
    Position on Chromosome: 37780795
    Alleles of this Variant: A/G

rs672601332 in EXOSC3;TRMT10B gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1B PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.