{{Rsnum
|rsid=35026927
|Gene=PYGL
|Chromosome=14
|position=50911799
|Orientation=plus
|GMAF=0.002755
|Gene_s=PYGL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=G
|CAF=0.9972; 0.002755
|CHROM=14
|CLNACC=RCV000020496.2
|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.51378517C>G
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK5941
|COMMON=1
|Disease=Glycogen storage disease
|FwdALT=C
|FwdREF=G
|GENEINFO=PYGL:5836
|GENE_ID=5836
|GENE_NAME=PYGL
|REF=C
|RSPOS=51378517
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000040516110100
|WGT=0
|dbSNPBuildID=126
|rsid=35026927
}}{{PMID Auto
|PMID=17705025
|Title=High frequency of missense mutations in glycogen storage disease type VI.
}}