{{Rsnum
|rsid=80356488
|Chromosome=17
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TA)
|geno3=(TA;TA)
|Gene=G6PC
|position=42907562
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=G6PC
}}{{omim
|id=232200
|rsnum=80356488
|variant=0001
}}{{ClinVar
|rsid=80356488
|Reversed=0
|FwdREF=TAC
|FwdALT=TA
|REF=G
|ALT=GTA
|RSPOS=41059575
|CHROM=17
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=G6PC:2538
|GENE_NAME=G6PC
|GENE_ID=2538
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41059578_41059579dupTA
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=232200
|CLNDBN=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000012777.1; RCV000020134.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1312:CN069618:232200:364:79258; NBK1312:C0268146:232220:364:79259:30102006
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1312; 613742.0001
|Disease=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
}}{{PMID|7573034|OA=1
}} Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

{{PMID|8211187}} Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.