{{Rsnum
|rsid=121912848
|Chromosome=3
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL7A1
|position=48575125
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912848
|variant=0033
}}{{ClinVar
|rsid=121912848
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=48612558
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48612558C>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000019006.26
|CLNDBN=Epidermolysis bullosa pruriginosa, autosomal dominant
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120120.0033
|Disease=Epidermolysis bullosa pruriginosa
}}