{{Rsnum
|rsid=119463989
|Chromosome=14
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=POMT2
|position=77278849
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=POMT2
}}{{omim
|id=607439
|rsnum=119463989
|variant=0001
}}{{ClinVar
|rsid=119463989
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=77745192
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=POMT2:29954
|GENE_NAME=POMT2
|GENE_ID=29954
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.77745192G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607439.0001
|CLNSIG=5
|CLNCUI=C3150411
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|CLNACC=RCV000003373.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1291:C3150411:613150:588:899
}}