{{Rsnum
|rsid=80338673
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GBE1
|position=81577972
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBE1
}}{{omim
|id=607839
|rsnum=80338673
|variant=0007
}}{{ClinVar
|rsid=80338673
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=81627123
|CHROM=3
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=GBE1:2632
|GENE_NAME=GBE1
|GENE_ID=2632
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.81627123C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK5300; 607839.0007
|CLNSIG=5
|CLNCUI=CN068581; C0017923
|CLNDBN=GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC; Adult polyglucosan body disease; Glycogen storage disease, type IV
|Disease=GLYCOGEN STORAGE DISEASE IV; Adult polyglucosan body disease; Glycogen storage disease
|CLNACC=RCV000002915.1; RCV000002916.1; RCV000020162.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN068581; NBK115333:NBK5300:C0017923:232500:367:11179002
}}{{PMID Auto
|PMID=10545044
|Title=A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
}}

{{PMID Auto
|PMID=10762170
|Title=Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
}}

{{PMID Auto
|PMID=15452297
|Title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
}}