{{Rsnum
|rsid=397515342
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GBE1
|position=81642991
|Gene_s=GBE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000002906.1
|CLNALLE=1
|CLNDBN=Glycogen storage disease IV, congenital neuromuscular
|CLNDSDB=MedGen
|CLNDSDBID=C1856304
|CLNHGVS=NC_000003.11:g.81692142C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607839.0001
|Disease=Glycogen storage disease IV
|FwdALT=A
|FwdREF=G
|GENEINFO=GBE1:2632
|GENE_ID=2632
|GENE_NAME=GBE1
|REF=C
|RSPOS=81692142
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=136
|rsid=397515342
}}