Variant: rs104893743

present in Gene: HYAL1 present in Chromosome: 3 Position on Chromosome: 50302155 Alleles of this Variant: C/T

rs104893743 in HYAL1 gene and Hyaluronidase Deficiency PMID 10339581 1999 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.