{{Rsnum
|rsid=113993975
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PYGL
|position=50921030
|Gene_s=PYGL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=14
|CLNACC=RCV000020504.2
|CLNALLE=1
|CLNDBN=Glycogen storage disease, type VI
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK5941:C0017925:232700:369:237971004:29291001
|CLNHGVS=NC_000014.8:g.51387748C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK5941
|Disease=Glycogen storage disease
|FwdALT=A
|FwdREF=G
|GENEINFO=PYGL:5836
|GENE_ID=5836
|GENE_NAME=PYGL
|REF=C
|RSPOS=51387748
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=113993975
}}{{PMID Auto
|PMID=12809646
|Title=A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.
}}