{{Rsnum
|rsid = 1064651
|Gene = GBA
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Chromosome=1
|position=155205518
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBA
}}{{omim
|desc=GAUCHER DISEASE, TYPE IIIC
|id=606463
|rsnum=1064651
|variant=0006
}}

{{ neighbor
| rsid = 2230288
| distance = 649
}}

{{omim
|id=606463
|rsnum=1064651
|variant=0047
}}

{{ClinVar
|rsid=1064651
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=155235727
|CHROM=1
|dbSNPBuildID=86
|SSR=1
|SAO=1
|VP=0x050260000a05040102110140
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155235727C>G
|CLNSRC=ClinVar; Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1342G>C; 789; NBK1269; 606463.0006; 606463.0047
|CLNSIG=5
|CLNCUI=C0268250; C0268250; C0268251; C0268251
|CLNDBN=Gaucher disease type 3C; Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease, perinatal lethal; Gaucher disease; not provided
|Disease=Gaucher disease type 3C; Gaucher's disease; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease; Gaucher disease; not provided
|CLNACC=RCV000004522.4; RCV000004523.4; RCV000004524.4; RCV000004525.4; RCV000004526.4; RCV000004580.1; RCV000004581.1; RCV000055773.1; RCV000079338.1
|Tags=RV;PM;S3D;NSM;REF;ASP;VLD;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C1856476:231005; NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C0268250:230900:12246008; NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C1842704:608013; NBK1269:C0017205
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}