{{Rsnum
|rsid=72555390
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GLB1
|position=33072637
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GLB1
}}{{omim
|id=611458
|rsnum=72555390
|variant=0004
}}{{ClinVar
|rsid=72555390
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=33114129
|CHROM=3
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=GLB1:2720
|GENE_NAME=GLB1
|GENE_ID=2720
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.33114129A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=611458.0004
|CLNSIG=5
|CLNCUI=C0268273
|CLNDBN=Gangliosidosis GM1 type 3
|Disease=Gangliosidosis GM1 type 3
|CLNACC=RCV000000974.1
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0268273:230650:79257
}}{{PMID Auto
|PMID=1353343
|Title=GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
}}

{{PMID Auto
|PMID=1909089
|Title=GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
|OA=1
}}