{{Rsnum
|rsid=121912839
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48572712
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912839
|variant=0023
}}{{ClinVar
|rsid=121912839
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48610145
|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.48610145C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=120120.0023
|CLNCUI=.,C0079474; C1843761
|CLNDBN=Recessive dystrophic epidermolysis bullosa; Nail disorder, nonsyndromic congenital, 8
|Disease=Recessive dystrophic epidermolysis bullosa; Nail disorder
|CLNACC=RCV000018998.26; RCV000022473.26
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=NBK1304:C0079474:226600:79408:79409:48528004; C1843761:607523
|CLNSIG=5
}}{{PMID Auto
|PMID=10469344
|Title=Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.
}}