Variant: rs786204704

present in Gene: RBM48;PEX1 present in Chromosome: 7 Position on Chromosome: 92528433 Alleles of this Variant: C/T

rs786204704 in RBM48;PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.