{{Rsnum
|rsid=200198778
|Chromosome=14
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=POMT2
|position=77278764
|Gene_s=POMT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=14
|CLNACC=RCV000003376.1; RCV000003377.1; RCV000081569.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; not provided
|CLNDSDB=MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C3150416:613156; NBK1291:C3150411:613150:588:899
|CLNHGVS=NC_000014.8:g.77745107T>C
|CLNSIG=5
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=4502; 607439.0004
|Disease=Congenital muscular dystrophy-dystroglycanopathy with mental retardation; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; not provided
|FwdALT=C
|FwdREF=T
|GENEINFO=POMT2:29954
|GENE_ID=29954
|GENE_NAME=POMT2
|REF=T
|RSPOS=77745107
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=200198778
}}