Variant: rs1250300189 

    present in Gene: SLC26A11;SGSH
    present in Chromosome: 17
    Position on Chromosome: 80220313
    Alleles of this Variant: T/C

rs1250300189 in SLC26A11;SGSH gene and Mucopolysaccharidosis Type IIIA PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.