Variant: rs587777616 

    present in Gene: CLP1
    present in Chromosome: 11
    Position on Chromosome: 57659895
    Alleles of this Variant: G/A

rs587777616 in CLP1 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 10 PMID 24766809 2014 Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

PMID 24766810 2014 CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.