{{Rsnum
|rsid=199922550
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=3
|Orientation=plus
|Gene=GMPPB
|position=49721847
|Gene_s=GMPPB,RNF123
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000054441.1
|CLNALLE=1
|CLNDBN=Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN178540:615352:363623
|CLNHGVS=NC_000003.11:g.49759280C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615320.0008
|Disease=Limb-girdle muscular dystrophy-dystroglycanopathy
|FwdALT=T
|FwdREF=C
|GENEINFO=RNF123:63891; GMPPB:29925
|GENE_ID=63891; 29925
|GENE_NAME=RNF123; GMPPB
|REF=C
|RSPOS=49759280
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=199922550
}}