LOVD COL6A2 homepage

General information
Gene name Collagen type VI alpha 2
Gene symbol COL6A2
Chromosome Location 21q22.3
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the COL6A2 database
Date of creation February 28, 2005
Last update March 31, 2017
Version COL6A2 170331
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008675.1
Transcript refseq ID NM_001849.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 175
Total number of individuals with variant(s) 215
Total number of variants reported 358
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NOTE This database was initiated with the help of Anne Lampe, based on the review article Lampe AK, Bushby KMD (2005). Collagen VI related muscle disorders. J. Med. Genet. 42: 673-685.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the COL6A2 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 COL6A2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the COL6A2 database
Variants with no known pathogenicity Listing of all COL6A2 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.LOVD.nl/COL6A2
HGNC 2212
Entrez Gene 1292
OMIM - Gene 120240
OMIM - Disease #1 myopathy, Bethlem (BM)
OMIM - Disease #2 dystrophy, muscular, congenital, Ullrich (UCMD)
OMIM - Disease #3 myosclerosis, congenital
GeneCards COL6A2
GeneTests COL6A2

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 © 2017. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.