Variant: rs1429239930

present in Gene: WDR83;MAN2B1 present in Chromosome: 19 Position on Chromosome: 12664860 Alleles of this Variant: G/A

rs1429239930 in WDR83;MAN2B1 gene and alpha-Mannosidosis PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).