{{Rsnum
|rsid=80356765
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GBA
|position=155206131
|Gene_s=GBA
|Assembly=GRCh37.p5
|GenomeBuild=37.3
|dbSNPBuild=137
}}{{ClinVar
|rsid=80356765
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=155206131
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000a01000002110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.10:g.155206131C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=606463.0040; 606463.0040; 606463.0040; 606463.0040; 606463.0040; 606463.0040
|CLNSIG=1
|CLNCUI=C1961835; C1961835; C1961835; C0268251; C0268251; C0268251
|CLNDBN=Gaucher's disease, type 1; Subacute neuronopathic Gaucher's disease
|Disease=Gaucher's disease; Subacute neuronopathic Gaucher's disease
|CLNACC=SCV000024745.1; SCV000024745.1; SCV000024745.1; SCV000024746.1; SCV000024746.1; SCV000024746.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;OTHERKG;LSD;OM
}}{{PMID|10466427}} Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.