{{Rsnum
|rsid=121912844
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48575419
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912844
|variant=0028
}}{{ClinVar
|rsid=121912844
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48612852
|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.48612852C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120120.0028
|CLNSIG=5
|CLNCUI=CN072571
|CLNDBN=Generalized dominant dystrophic epidermolysis bullosa
|Disease=Generalized dominant dystrophic epidermolysis bullosa
|CLNACC=RCV000019001.26
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1304:CN072571:131750:231568
}}{{PMID Auto
|PMID=9856844
|Title=Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
}}

{{PMID Auto
|PMID=10084325
|Title=Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
}}