{{Rsnum
|rsid=1135675
|Chromosome=1
|position=155235203
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GBA
|Gene_s=GBA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000004533.3; RCV000004534.3; RCV000004535.3; RCV000004536.3; RCV000079342.1
|CLNALLE=1
|CLNDBN=Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease, perinatal lethal; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM; MedGen
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0268250:230900:12246008; NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C1842704:608013; CN169374
|CLNHGVS=NC_000001.11:g.155235203C>G
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant
|CLNSRCID=NM_001005741.2:c.1497G>C; 792; 606463.0009
|Disease=Gaucher's disease; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease; AllHighlyPenetrant
|FwdALT=C
|FwdREF=G
|GENEINFO=GBA:2629
|GENE_ID=2629
|GENE_NAME=GBA
|REF=C
|RSPOS=155235203
|Reversed=1
|SAO=0
|SSR=1
|Tags=RV;S3D;REF;SYN;ASP;VLD;GNO;OTHERKG
|VC=SNV
|VP=0x050200000305040102000140
|WGT=1
|dbSNPBuildID=86
|rsid=1135675
}}