Variant: rs2230288 

    present in Gene: GBA
    present in Chromosome: 1
    Position on Chromosome: 155236376
    Alleles of this Variant: C/T

rs2230288 in GBA gene and Gaucher Disease, Type 1 PMID 8829654 1996 Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

PMID 9650766 1998 A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

PMID 8889591 1996 Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

PMID 9182788 1997 Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

PMID 22658918 2012 Novel pathogenic mutations in the glucocerebrosidase locus.

PMID 8432537 1993 Identification of six new Gaucher disease mutations.

PMID 15605411 2005 Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

PMID 15292921 2004 Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.

PMID 15916907 2005 Use of fluorescent substrates for characterization of Gaucher disease mutations.

PMID 7627184 1995 Gaucher disease in Spanish patients: analysis of eight mutations.

PMID 1864608 1991 Three unique base pair changes in a family with Gaucher disease.

PMID 12204005 2002 Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

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

PMID 1972019 1990 Sequence of two alleles responsible for Gaucher disease.

PMID 1974409 1990 Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.

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.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 10352942 1999 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

PMID 7475546 1995 Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

PMID 24577513 2014 Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 9683600 1998 Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 8294033 1993 A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.

PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 10206680 1998 A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.

PMID 10340647 1999 Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 10447266 1999 Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.

PMID 24434810 2014 Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.

rs2230288 in GBA gene and Parkinson Disease PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.