{{Rsnum
|rsid=121912834
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48572941
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912834
|variant=0014
}}{{ClinVar
|rsid=121912834
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48610374
|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.48610374C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120120.0014
|CLNSIG=5
|CLNCUI=C1851573; C1843761
|CLNDBN=Transient bullous dermolysis of the newborn; Nail disorder, nonsyndromic congenital, 8; Epidermolysis bullosa pruriginosa, autosomal dominant
|Disease=Transient bullous dermolysis of the newborn; Nail disorder; Epidermolysis bullosa pruriginosa
|CLNACC=RCV000018984.26; RCV000018985.22; RCV000018986.22
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=NBK1304:C1851573:131705:79411; C1843761:607523
}}{{PMID Auto
|PMID=9856844
|Title=Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
}}

{{PMID Auto
|PMID=17434045
|Title=Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
}}