{{Rsnum
|rsid=397515344
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GBE1
|position=81648851
|Gene_s=GBE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=3
|CLNACC=RCV000002926.1; RCV000056135.1
|CLNALLE=1
|CLNDBN=Glycogen storage disease IV, congenital neuromuscular; Glycogen storage disease, type IV
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1856304; NBK115333:NBK5300:C0017923:232500:367:11179002
|CLNHGVS=NC_000003.11:g.81698002C>G
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK5300; 607839.0017
|Disease=Glycogen storage disease IV; Glycogen storage disease
|FwdALT=C
|FwdREF=G
|GENEINFO=GBE1:2632
|GENE_ID=2632
|GENE_NAME=GBE1
|REF=C
|RSPOS=81698002
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515344
}}