present in Gene: GNPTAB;CHPT1
present in Chromosome: 12
Position on Chromosome: 101749192
Alleles of this Variant: C/T
rs35576380 in
GNPTAB;CHPT1 gene and
Mucolipidoses
PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.