Variant: rs763100457 

    present in Gene: MAN2B1
    present in Chromosome: 19
    Position on Chromosome: 12652271
    Alleles of this Variant: C/A

rs763100457 in MAN2B1 gene and Multiple congenital anomalies PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 18651971 2008 Alpha-mannosidosis.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.