{{Rsnum
|rsid=121434553
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL6A3
|position=237367151
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL6A3
}}{{omim
|id=120250
|rsnum=121434553
|variant=0001
}}{{ClinVar
|rsid=121434553
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=238275794
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL6A3:1293
|GENE_NAME=COL6A3
|GENE_ID=1293
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.238275794C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120250.0001
|CLNSIG=5
|CLNCUI=C1834674
|CLNDBN=Bethlem myopathy
|Disease=Bethlem myopathy
|CLNACC=RCV000018689.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:NBK1503:C1834674:158810:610
}}