{{Rsnum
|rsid=113993976
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PYGL
|position=50916718
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PYGL
}}{{omim
|id=232700
|rsnum=113993976
|variant=0003
}}{{ClinVar
|rsid=113993976
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=51383436
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=PYGL:5836
|GENE_NAME=PYGL
|GENE_ID=5836
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.51383436T>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK5941; 613741.0003
|CLNSIG=5
|CLNCUI=C0017925; C0017925
|CLNDBN=Glycogen storage disease, type VI
|Disease=Glycogen storage disease
|CLNACC=RCV000031853.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK5941:C0017925:232700:369:237971004:29291001
}}{{PMID|9529348|OA=1
}} Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.