{{Rsnum
|rsid=397509422
|Chromosome=3
|position=49721835
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GMPPB
|Gene_s=GMPPB,RNF123
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000054432.1; RCV000054433.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14; Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN178538:615350:588; CN178540:615352:363623
|CLNHGVS=NC_000003.11:g.49759268C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615320.0001
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; Limb-girdle muscular dystrophy-dystroglycanopathy
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=49759268
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397509422
|GENEINFO=RNF123:63891; GMPPB:29925
|GENE_ID=63891; 29925
|GENE_NAME=RNF123; GMPPB
}}