LOVD COL7A1 homepage

General information
Gene name collagen, type VII, alpha 1
Gene symbol COL7A1
Chromosome Location 3p21.1
Database location grenada.lumc.nl
Curator Peter van den Akker
Database reference for citations Van den Akker PC, et al. Hum Mutat. 2011. doi: 10.1002/humu.21551. PubMed ID: 21681854
PubMed references View all (unique) PubMed references in the COL7A1 database
Date of creation April 29, 2010
Last update January 05, 2013
Version COL7A1 130105
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_007065.1
Transcript refseq ID NM_000094.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 352
Total number of individuals with variant(s) 543
Total number of variants reported 965
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the COL7A1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the COL7A1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the COL7A1 database
Variants with no known pathogenicity Listing of all COL7A1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.deb-central.org
HGNC 2214
Entrez Gene 1294
OMIM - Gene 120120
OMIM - Disease #1 TOENAIL DYSTROPHY, ISOLATED
OMIM - Disease #2 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
OMIM - Disease #3 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
OMIM - Disease #4 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND
OMIM - Disease #5 EPIDERMOLYSIS BULLOSA PRURIGINOSA
OMIM - Disease #6 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
OMIM - Disease #7 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM - Disease #8 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
UniProtKB (SwissProt/TrEMBL) Q02388
HGMD COL7A1
GeneCards COL7A1
GeneTests COL7A1
External link Orphanet

Copyright & disclaimer
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