{{Rsnum
|rsid=80356487
|Gene=G6PC
|Chromosome=17
|position=42911391
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=G6PC
}}{{omim
|id=232200
|rsnum=80356487
|variant=0004
}}{{ClinVar
|rsid=80356487
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=41063408
|CHROM=17
|GMAF=0.0009
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040016110100
|GENEINFO=G6PC:2538
|GENE_NAME=G6PC
|GENE_ID=2538
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41063408C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1312; 613742.0004
|CLNSIG=5
|CLNCUI=CN069618; C0268146
|CLNDBN=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
|Disease=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
|CLNACC=RCV000012780.1; RCV000020130.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|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
|COMMON=0
}}{{PMID|7573034|OA=1
}} Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

{{PMID|8182131|OA=1
}} Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.