{{Rsnum
|rsid=121912831
|Chromosome=3
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL7A1
|position=48568098
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912831
|variant=0007
}}{{ClinVar
|rsid=121912831
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=48605531
|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.48605531C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=120120.0007
|CLNSIG=5
|CLNCUI=C0432321
|CLNDBN=Pretibial epidermolysis bullosa
|Disease=Pretibial epidermolysis bullosa
|CLNACC=RCV000018975.26
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0432321:131850:79410:67653003
}}{{PMID Auto
|PMID=8541842
|Title=Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
}}