Variant: rs1260510628 

    present in Gene: GNPTG
    present in Chromosome: 16
    Position on Chromosome: 1362535
    Alleles of this Variant: G/C;T

rs1260510628 in GNPTG gene and Mucolipidosis III Gamma PMID 24316125 2014 Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.