{{Rsnum
|rsid=121912934
|Chromosome=21
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL6A1
|position=45998399
|Gene_s=COL6A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120220
|rsnum=121912934
|variant=0001
}}{{ClinVar
|rsid=121912934
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=47418313
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL6A1:1291
|GENE_NAME=COL6A1
|GENE_ID=1291
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.47418313G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120220.0001
|CLNSIG=5
|CLNCUI=C1834674
|CLNDBN=Bethlem myopathy
|Disease=Bethlem myopathy
|CLNACC=RCV000018709.22
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:NBK1503:C1834674:158810:610
}}