LOVD COL5A2 homepage

General information
Gene name collagen, type V, alpha 2
Gene symbol COL5A2
Chromosome Location 2q32.2
Database location Dalgleish Laboratory, Department of Genetics, University of Leicester, UK
Curator Raymond Dalgleish
PubMed references View all (unique) PubMed references in the COL5A2 database
Date of creation October 06, 2009
Last update June 19, 2013
Version COL5A2 130619
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_011799.1
Transcript refseq ID NM_000393.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 46
Total number of individuals with variant(s) 45
Total number of variants reported 46
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NOTE The work leading to the establishment of this LSDB was supported by the European Commission's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the COL5A2 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 COL5A2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the COL5A2 database
Variants with no known pathogenicity Listing of all COL5A2 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

Links to other resources
Homepage http://www.le.ac.uk/genetics/collagen
Entrez Gene 1290
OMIM - Gene 120190
OMIM - Disease EDS I
HGMD COL5A2
GeneTests COL5A2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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