{{Rsnum
|rsid=121912856
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48593538
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912856
|variant=0041
}}{{ClinVar
|rsid=121912856
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=48630971
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48630971T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=120120.0045
|CLNSIG=5
|CLNCUI=C2673612; C2673612
|CLNDBN=Epidermolysis bullosa dystrophica inversa, autosomal recessive
|Disease=Epidermolysis bullosa dystrophica inversa
|CLNACC=RCV000022479.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C2673612
}}