The COL7A1 gene homepage

General information
Gene symbol COL7A1
Gene name collagen type VII alpha 1 chain
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_007065.1
Transcript reference NM_000094.4
Associated with diseases DEBP
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created May 04, 2021
Date last updated September 08, 2021
Version COL7A1:210908

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 DEBP (Dystrophic Epidermolysis Bullosa Pruriginosa)
HGMD COL7A1
GeneCards COL7A1
GeneTests COL7A1
Orphanet COL7A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000593 3 collagen type VII alpha 1 chain NM_000094.4 NP_000085.1 1


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