The COL7A1 gene homepage

General information
Gene symbol COL7A1
Gene name collagen, type VII, alpha 1
Chromosome 3
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_007065.1
Transcript reference NM_000094.3
Exon/intron information NM_000094.3 exon/intron table
Associated with diseases DDEB, NDNC8, RDEB, TBDN, epidermolysis bullosa pruriginosa, epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type), epidermolysis bullosa, pretibial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Peter van den Akker
Total number of public variants reported 1049
Unique public DNA variants reported 588
Individuals with public variants 564
Hidden variants 26
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated November 27, 2023
Version COL7A1:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000094.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 2214
Entrez Gene 1294
PubMed articles COL7A1
OMIM - Gene 120120
OMIM - Diseases DDEB (Epidermolysis bullosa dystrophica, AD)
NDNC8 (nail disorder, nonsyndromic congenital, type 8 (NDNC-8))
RDEB (epidermolysis bullosa dystrophica, autosomal recessive (RDEB))
TBDN (Transient bullous dermolysis of the newborn)
epidermolysis bullosa pruriginosa
epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type)
epidermolysis bullosa, pretibial
GeneCards COL7A1
GeneTests COL7A1
Orphanet COL7A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000019 3 collagen, type VII, alpha 1 NM_000094.3 NP_000085.1 1049

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