Variant: rs112029032 

    present in Gene: HGSNAT
    present in Chromosome: 8
    Position on Chromosome: 43199504
    Alleles of this Variant: G/A

rs112029032 in HGSNAT gene and Retinal Dystrophies PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).