{{Rsnum
|rsid=77369218
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=GBA
|position=155205517
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBA
}}{{omim
|id=606463
|rsnum=77369218
|variant=0006
}}
{{omim
|id=606463
|rsnum=77369218
|variant=0007
}}{{ClinVar
|rsid=77369218
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=155235726
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000a05000402110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155235726T>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1343A>T; NBK1269; 606463.0007
|CLNSIG=5
|CLNCUI=C0268251; C0268251
|CLNDBN=Subacute neuronopathic Gaucher's disease; Gaucher disease
|Disease=Subacute neuronopathic Gaucher's disease; Gaucher disease
|CLNACC=RCV000004527.1; RCV000020149.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;HD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C0017205
}}{{PMID Auto
|PMID=2508065
|Title=Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
|OA=1
}}

{{PMID Auto
|PMID=7475546
|Title=Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
}}

{{PMID Auto
|PMID=7627184
|Title=Gaucher disease in Spanish patients: analysis of eight mutations.
}}

{{PMID Auto
|PMID=7655857
|Title=Five new Gaucher disease mutations.
}}

{{PMID Auto
|PMID=11148530
|Title=A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
}}

{{PMID Auto
|PMID=18586596
|Title=Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
}}