{{Rsnum
|rsid=121434554
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL6A3
|position=237381419
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL6A3
}}{{omim
|id=120250
|rsnum=121434554
|variant=0003
}}{{ClinVar
|rsid=121434554
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=238290062
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=COL6A3:1293
|GENE_NAME=COL6A3
|GENE_ID=1293
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.238290062G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000018691.26
|CLNDBN=Ullrich congenital muscular dystrophy, autosomal recessive
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120250.0003
|Disease=Ullrich congenital muscular dystrophy
}}