{{Rsnum
|rsid=121918193
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PFKM
|position=48130393
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PFKM
}}{{omim
|id=610681
|rsnum=121918193
|variant=0003
}}{{ClinVar
|rsid=121918193
|Reversed=0
|FwdREF=G
|FwdALT=A,C,T
|REF=G
|ALT=A,C,T
|RSPOS=48524176
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110104
|GENEINFO=PFKM:5213
|GENE_NAME=PFKM
|GENE_ID=5213
|WGT=0
|VC=SNV
|CLNALLE=2; 3
|CLNHGVS=NC_000012.11:g.48524176G>C; NC_000012.11:g.48524176G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=610681.0003; 610681.0006
|CLNSIG=5
|CLNCUI=C0017926
|CLNDBN=Glycogen storage disease, type VII
|Disease=Glycogen storage disease
|CLNACC=RCV000001213.1; RCV000001216.1
|Tags=PM;S3D;OTHERKG;LSD;OM;NOV
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0017926:232800:371:89597008
}}