{{Rsnum
|rsid=121912845
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL7A1
|position=48580301
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912845
|variant=0029
}}{{ClinVar
|rsid=121912845
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48617734
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=MIR711:100313843; COL7A1:1294
|GENE_NAME=MIR711; COL7A1
|GENE_ID=100313843; 1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48617734G>A
|CLNORIGIN=0
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000019002.22
|CLNDBN=Epidermolysis bullosa, pretibial, autosomal recessive
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120120.0029
|Disease=Epidermolysis bullosa
}}