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).