Variant: rs62636524

present in Gene: PEX10;PLCH2 present in Chromosome: 1 Position on Chromosome: 2412499 Alleles of this Variant: C/-

rs62636524 in PEX10;PLCH2 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.