{{Rsnum
|rsid=367543074
|Chromosome=1
|position=235465675
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=B3GALNT2
|Gene_s=B3GALNT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000034848.2; RCV000119389.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; not provided
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=CN168979:615181:ORPHA588:ORPHA899
|CLNHGVS=NC_000001.11:g.235465675C>T
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_152490.3:c.802G>A; 610194.0005
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; not provided
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=235465675
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD
|VC=SNV
|VP=0x050168000a05000002100100
|WGT=1
|dbSNPBuildID=137
|rsid=367543074
|GENEINFO=B3GALNT2:148789
|GENE_ID=148789
|GENE_NAME=B3GALNT2
}}{{PMID Auto
|PMID=23453667
|Title=Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.
|OA=1
}}