{{Rsnum
|rsid=121912833
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48584742
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912833
|variant=0011
}}{{ClinVar
|rsid=121912833
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=48622175
|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.48622175C>G
|CLNORIGIN=0
|CLNSRCID=
120120.0011
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000018982.26
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDBN=Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
|CLNDSDB=MedGen
|CLNDSDBID=C2673611
|CLNSRC=OMIM Allelic Variant
|Disease=Epidermolysis bullosa dystrophica
}}{{PMID Auto
|PMID=9804332
|Title=Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
}}