{{Rsnum
|rsid=80356768
|Chromosome=1
|Orientation=minus
|geno1=(-;-)
|geno2=(-;CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT)
|geno3=(CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT;CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT)
|Gene=GBA
|position=155205543
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
}}{{omim
|id=606463
|rsnum=80356768
|variant=0023
}}{{ClinVar
|rsid=80356768
|Reversed=1
|FwdREF=CTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTC
|FwdALT=
|REF=GACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG
|ALT=G
|RSPOS=155235751
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368001205000002110200
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155235752_155235806del55
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1263_1317del55; NBK1269; 606463.0023
|CLNSIG=5
|CLNCUI=C1961835; C1961835; C1842704; C1842704; C0017205; C0017205
|CLNDBN=Gaucher's disease, type 1; Gaucher disease, perinatal lethal; Gaucher disease
|Disease=Gaucher's disease; Gaucher disease; Gaucher disease
|CLNACC=RCV000004554.3; RCV000004555.3; RCV000020147.2
|Tags=RV;PM;PMC;S3D;SLO;NSF;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C1842704:608013; NBK1269:C0017205
}}{{PMID Auto
|PMID=8432537
|Title=Identification of six new Gaucher disease mutations.
}}

{{PMID Auto
|PMID=10685993
|Title=Type 2 Gaucher disease: the collodion baby phenotype revisited.
|OA=1
}}