Variant: rs1461368206 

    present in Gene: SEPSECS
    present in Chromosome: 4
    Position on Chromosome: 25144826
    Alleles of this Variant: G/C

rs1461368206 in SEPSECS gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PMID 26115735 2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

PMID 20920667 2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.