{{Rsnum
|rsid=121912854
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL7A1
|position=48592915
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912854
|variant=0040
}}{{ClinVar
|rsid=121912854
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48630348
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48630348G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120120.0040
|CLNSIG=5
|CLNCUI=C2673612; C0079474
|CLNDBN=Epidermolysis bullosa dystrophica inversa, autosomal recessive; Recessive dystrophic epidermolysis bullosa
|Disease=Epidermolysis bullosa dystrophica inversa; Recessive dystrophic epidermolysis bullosa
|CLNACC=RCV000019013.26; RCV000019014.26
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C2673612; NBK1304:C0079474:226600:79408:79409:48528004
}}{{PMID Auto
|PMID=8037207
|Title=Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
|OA=1
}}