Variant: rs755832705 

    present in Gene: LOC107983950;TRAPPC2L;GALNS
    present in Chromosome: 16
    Position on Chromosome: 88856771
    Alleles of this Variant: A/C

rs755832705 in LOC107983950;TRAPPC2L;GALNS gene and Mucopolysaccharidosis, MPS-IV-A PMID 25252036 2014 GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.