{{Rsnum
|rsid=113993978
|Chromosome=14
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PYGL
|position=50915869
|Gene_s=PYGL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=14
|CLNACC=RCV000020492.2
|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.51382587G>A
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK5941
|Disease=Glycogen storage disease
|FwdALT=T
|FwdREF=C
|GENEINFO=PYGL:5836
|GENE_ID=5836
|GENE_NAME=PYGL
|REF=G
|RSPOS=51382587
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=113993978
}}{{PMID Auto
|PMID=17705025
|Title=High frequency of missense mutations in glycogen storage disease type VI.
}}