{{Rsnum
|rsid=397509425
|Chromosome=3
|position=49722604
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GMPPB
|Gene_s=GMPPB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=3
|CLNACC=RCV000054436.2; RCV000054437.2
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14; Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:Orphanet
|CLNDSDBID=CN178539:615351; CN178540:615352:363623
|CLNHGVS=NC_000003.11:g.49760037G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615320.0004
|Disease=Congenital muscular dystrophy-dystroglycanopathy with mental retardation; Limb-girdle muscular dystrophy-dystroglycanopathy
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=49760037
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397509425
|GENEINFO=GMPPB:29925
|GENE_ID=29925
|GENE_NAME=GMPPB
}}