{{Rsnum
|rsid=121912840
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48581483
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912840
|variant=0024
}}{{ClinVar
|rsid=121912840
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=48618916
|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.48618916C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120120.0024
|CLNSIG=5
|CLNCUI=C0079474; C1843761
|CLNDBN=Recessive dystrophic epidermolysis bullosa; Nail disorder, nonsyndromic congenital, 8
|Disease=Recessive dystrophic epidermolysis bullosa; Nail disorder
|CLNACC=RCV000018993.26; RCV000022474.26
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=NBK1304:C0079474:226600:79408:79409:48528004; C1843761:607523
}}{{PMID|11843659}} Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.