{{Rsnum
|rsid=267606960
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46192168
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000004207.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3150412:613151
|CLNHGVS=NC_000001.11:g.46192168C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1469G>A; 606822.0016
|Disease=Congenital muscular dystrophy-dystroglycanopathy with mental retardation
|FwdALT=A
|FwdREF=G
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|REF=C
|RSPOS=46192168
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=267606960
|CLNORIGIN=1
}}