{{Rsnum
|rsid=80356771
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GBA
|position=155204987
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
}}{{omim
|id=606463
|rsnum=80356771
|variant=0008
}}{{ClinVar
|rsid=80356771
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=155235196
|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.155235196G>A
|CLNSRC=ClinVar; Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1504C>T; 830; NBK1269; 606463.0008
|CLNSIG=255
|CLNCUI=C1961835; C1961835; C0268250; C0268250; C0268251; C0268251; C0017205; C0017205
|CLNDBN=Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Parkinson disease, late-onset, susceptibility to; Gaucher disease; not provided
|Disease=Gaucher's disease; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Parkinson disease; Gaucher disease; not provided
|CLNACC=RCV000004528.3; RCV000004529.3; RCV000004530.3; RCV000004531.3; RCV000020151.1; RCV000079343.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0268250:230900:12246008; NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C0017205
}}{{PMID Auto
|PMID=1972019
|Title=Sequence of two alleles responsible for Gaucher disease.
}}