Variant: rs28934886 

    present in Gene: LOC107986073;GLB1
    present in Chromosome: 3
    Position on Chromosome: 33016818
    Alleles of this Variant: C/T

rs28934886 in LOC107986073;GLB1 gene and Gangliosidosis, Generalized GM1, Type 3 PMID 24737316 2014 Structural basis of pharmacological chaperoning for human β-galactosidase.

PMID 1907800 1991 Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 25936995 2015 Recurrent and novel GLB1 mutations in India.

PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 15986423 2005 Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

PMID 16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

PMID 11511921 2001 Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.