Variant: rs879253779 

    present in Gene: TSEN15
    present in Chromosome: 1
    Position on Chromosome: 184072258
    Alleles of this Variant: A/G

rs879253779 in TSEN15 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 2F PMID 27392077 2016 Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.