{{Rsnum
|rsid=76763715
|Gene=GBA
|Chromosome=1
|position=155205634
|Orientation=plus
|GMAF=0.001377
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}
{{omim
|id=606463
|rsnum=76763715
|variant=0003
}}{{ClinVar
|rsid=76763715
|Reversed=0
|FwdREF=T
|FwdALT=C,G
|REF=T
|ALT=C,G
|RSPOS=155235843
|CHROM=1
|GMAF=0.0014
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000a05040416110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.155235843T>C; NC_000001.11:g.155235843T>G
|CLNSRC=ClinVar; Emory University; GTR; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1; 0
|CLNSRCID=NM_001005741.2:c.1226A>G; 788; GTR000325400; GTR000334177; GTR000501121; NBK1269; 606463.0003; NM_001005741.2:c.1226A>C
|CLNSIG=255
|CLNCUI=C1961835; C1961835; C1961835; C0017205; C0017205; C0017205
|CLNDBN=Gaucher's disease, type 1; Parkinson disease, late-onset, susceptibility to; Dementia, Lewy body, susceptibility to; not provided; Gaucher disease
|Disease=Gaucher's disease; Parkinson disease; Dementia; not provided; Gaucher disease
|CLNACC=RCV000004515.3; RCV000004516.3; RCV000004517.3; RCV000079336.1; RCV000020146.1
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377; .
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0017205
|COMMON=0
}}{{PMID Auto
|PMID=2117855
|Title=Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
}}

{{PMID Auto
|PMID=2309702
|Title=Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
|OA=1
}}

{{PMID Auto
|PMID=7789963
|Title=Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
}}

{{PMID Auto
|PMID=8432537
|Title=Identification of six new Gaucher disease mutations.
}}

{{PMID Auto
|PMID=9497856
|Title=Gaucher's disease: molecular, genetic and enzymological aspects.
}}

{{PMID Auto
|PMID=9554746
|Title=Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
}}