{{Rsnum
|rsid=121912829
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48575401
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912829
|variant=0002
}}{{ClinVar
|rsid=121912829
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48612834
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48612834C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=120120.0002
|CLNSIG=5
|CLNCUI=CN072571
|CLNDBN=Generalized dominant dystrophic epidermolysis bullosa
|Disease=Generalized dominant dystrophic epidermolysis bullosa
|CLNACC=RCV000018970.26
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1304:CN072571:131750:231568
}}{{PMID Auto
|PMID=1680286
|Title=Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
|OA=1
}}

{{PMID Auto
|PMID=8170945
|Title=Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
|OA=1
}}