Variant: rs61752115

present in Gene: PEX13 present in Chromosome: 2 Position on Chromosome: 61048535 Alleles of this Variant: T/C

rs61752115 in PEX13 gene and PEROXISOME BIOGENESIS DISORDER 11B PMID 10332040 1999 Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

PMID 10441568 1999 PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.