{{Rsnum
|rsid=80356769
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=GBA
|position=155205563
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
}}{{omim
|id=606463
|rsnum=80356769
|variant=0005
}}{{ClinVar
|rsid=80356769
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=155235772
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000a05000002110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155235772C>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1297G>T; NBK1269; 606463.0005
|CLNSIG=5
|CLNCUI=C0268251; C0268251; C0268251; C0268251; C1961835; C1961835; C1961835; C1961835; C0017205; C0017205; C0017205; C0017205
|CLNDBN=Subacute neuronopathic Gaucher's disease; Gaucher's disease, type 1; Gaucher disease
|Disease=Subacute neuronopathic Gaucher's disease; Gaucher's disease; Gaucher disease
|CLNACC=RCV000004520.1; RCV000004521.1; RCV000020148.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0017205
}}{{PMID|2349952|OA=1
}} Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

{{PMID|2508065|OA=1
}} Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.