Variant: rs121908295 

    present in Gene: GBA
    present in Chromosome: 1
    Position on Chromosome: 155235708
    Alleles of this Variant: G/C

rs121908295 in GBA gene and Gaucher Disease, Type 2 (disorder) PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 7627192 1995 Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.

PMID 9851895 1998 A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.

PMID 9637431 1998 Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.

PMID 9554454 1998 Six new Gaucher disease mutations.

PMID 21098288 2010 Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.