{{Rsnum
|rsid = 381737
|Gene = GBA
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Chromosome=1
|position=155207932
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBA
}}{{omim
|desc=GAUCHER DISEASE, TYPE III
|id=606463
|rsnum=381737
|variant=0013
}}{{ClinVar
|rsid=381737
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=155238141
|CHROM=1
|dbSNPBuildID=80
|SSR=1
|SAO=1
|VP=0x050368000a05040102110140
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155238141A>T
|CLNSRC=ClinVar; Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.754T>A; 802; NBK1269; 606463.0013
|CLNSIG=5
|CLNCUI=C0268251; C0268251; C0268250; C0268250; C1961835; C1961835; C0017205; C0017205
|CLNDBN=Subacute neuronopathic Gaucher's disease; Acute neuronopathic Gaucher's disease; Gaucher's disease, type 1; Gaucher disease; not provided
|Disease=Subacute neuronopathic Gaucher's disease; Acute neuronopathic Gaucher's disease; Gaucher's disease; Gaucher disease; not provided
|CLNACC=RCV000004540.3; RCV000004541.3; RCV000004542.3; RCV000020158.1; RCV000079355.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C0268250:230900:12246008; NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0017205
}}{{PMID Auto
|PMID=1840477
|Title=A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
|OA=1
}}