Variant: rs762679408

present in Gene: PEX1;RBM48 present in Chromosome: 7 Position on Chromosome: 92528431 Alleles of this Variant: C/T

rs762679408 in PEX1;RBM48 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.