{{Rsnum
|rsid=74374973
|Gene=POMGNT1
|Chromosome=1
|position=46189973
|Orientation=plus
|GMAF=0.007346
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=POMGNT1
}}{{omim
|id=606822
|rsnum=74374973
|variant=0013
}}{{ClinVar
|ALT=T
|CAF=0.9927; 0.007346
|CHROM=1
|CLNACC=RCV000004204.1; RCV000081801.2
|CLNALLE=1
|CLNDBN=Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; AllHighlyPenetrant
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C3150417:613157; CN169374
|CLNHGVS=NC_000001.11:g.46189973C>T
|CLNSIG=5
|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1666G>A; 11034; 606822.0013
|COMMON=1
|Disease=Limb-girdle muscular dystrophy-dystroglycanopathy; AllHighlyPenetrant
|FwdALT=T
|FwdREF=C
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|REF=C
|RSPOS=46189973
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSM;REF;ASP;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000a05040416110100
|WGT=1
|dbSNPBuildID=131
|rsid=74374973
|CLNORIGIN=1
}}