{{Rsnum
|rsid=72555392
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GLB1
|position=33072613
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GLB1
}}{{omim
|id=611458
|rsnum=72555392
|variant=0023
}}

{{ClinVar
|rsid=72555392
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=33114105
|CHROM=3
|dbSNPBuildID=130
|SSR=0
|SAO=3
|VP=0x050268000000000002110120
|GENEINFO=GLB1:2720
|GENE_NAME=GLB1
|GENE_ID=2720
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.33114105C>T
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=4652; 611458.0023
|CLNSIG=5
|CLNCUI=C0268271
|CLNDBN=GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT; Infantile GM1 gangliosidosis; Juvenile GM>1< gangliosidosis; not provided
|Disease=GM1-GANGLIOSIDOSIS; Infantile GM1 gangliosidosis; Juvenile GM>1< gangliosidosis; not provided
|CLNACC=RCV000000994.1; RCV000000995.1; RCV000059350.1; RCV000078708.1
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen; MedGen:OMIM:SNOMED_CT; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C1968747; C0268271:230500:238026007; C0268272:230600:354:79256:18756002
}}

{{PMID Auto
|PMID=10737981
|Title=beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
}}

{{PMID Auto
|PMID=17309650
|Title=Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
}}

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