Variant: rs1557041672 

    present in Gene: SLC35A2;PQBP1
    present in Chromosome: X
    Position on Chromosome: 48902740
    Alleles of this Variant: C/T

rs1557041672 in SLC35A2;PQBP1 gene and Renpenning syndrome 1 PMID 20950397 2011 The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.