{{Rsnum
|rsid=117725825
|Chromosome=21
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL6A2
|position=46132287
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120240
|rsnum=117725825
|variant=0010
}}{{ClinVar
|rsid=117725825
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=47552201
|CHROM=21
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050060000000040402110100
|GENEINFO=COL6A2:1292
|GENE_NAME=COL6A2
|GENE_ID=1292
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.47552201C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120240.0010
|CLNSIG=5
|CLNCUI=C1834674
|CLNDBN=Bethlem myopathy
|Disease=Bethlem myopathy
|CLNACC=RCV000018704.26
|Tags=PM;VLD;HD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:NBK1503:C1834674:158810:610
}}