{{Rsnum
|rsid=76539814
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GBA
|position=155206175
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBA
}}{{omim
|id=606463
|rsnum=76539814
|variant=0017
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000004548.5; RCV000041967.5
|CLNALLE=1
|CLNDBN=Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0268250:230900:12246008
|CLNHGVS=NC_000001.11:g.155236384G>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001005741.2:c.1085C>T; 606463.0017
|Disease=Gaucher's disease; Acute neuronopathic Gaucher's disease
|FwdALT=T
|FwdREF=C
|GENEINFO=GBA:2629
|GENE_ID=2629
|GENE_NAME=GBA
|REF=G
|RSPOS=155236384
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;S3D;NSM;REF;ASP;HD;OTHERKG;LSD;OM;NOC
|VC=SNV
|VP=0x050260000a05000402110110
|WGT=1
|dbSNPBuildID=131
|rsid=76539814
}}