{{Rsnum
|rsid=80356763
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=GBA
|position=155208387
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
}}{{omim
|id=606463
|rsnum=80356763
|variant=0042
}}{{ClinVar
|rsid=80356763
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=155238596
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000a15000002110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155238596C>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.509G>T; NBK1269; 606463.0042
|CLNSIG=5
|CLNCUI=C1842704; C1842704; C0017205; C0017205
|CLNDBN=Gaucher disease, perinatal lethal; Gaucher disease
|Disease=Gaucher disease; Gaucher disease
|CLNACC=RCV000004574.1; RCV000020155.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;OTH;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C1842704:608013; NBK1269:C0017205
}}{{PMID Auto
|PMID=10685993
|Title=Type 2 Gaucher disease: the collodion baby phenotype revisited.
|OA=1
}}