{{Rsnum
|rsid=367543077
|Chromosome=1
|position=235450286
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=B3GALNT2
|Gene_s=B3GALNT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000034849.2; RCV000119383.1
|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.235450286G>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_152490.3:c.1423C>T; 610194.0006
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; not provided
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=235450286
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;SLO;NSN;REF;ASP;OTHERKG;LSD
|VC=SNV
|VP=0x050168000605000002100100
|WGT=1
|dbSNPBuildID=137
|rsid=367543077
|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
}}