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LOVD COL1A1 homepage

General information
Gene name collagen type I alpha 1 chain
Gene symbol COL1A1
Chromosome Location 17q21.33
Database location Dalgleish Laboratory, Department of Genetics, University of Leicester, UK
Curator Raymond Dalgleish, Ivana Osredek and Wei Kheng Teh
PubMed references View all (unique) PubMed references in the COL1A1 database
Date of creation February 19, 2008
Last update November 18, 2020
Version COL1A1 201118
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_007400.1
Transcript refseq ID NM_000088.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1065
Total number of individuals with variant(s) 2053
Total number of variants reported 2077
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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 COL1A1 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 COL1A1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the COL1A1 database
Variants with no known pathogenicity Listing of all COL1A1 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
Entrez Gene 1277
OMIM - Gene 120150
OMIM - Disease #1 OI I
OMIM - Disease #2 OI II
OMIM - Disease #3 OI III
OMIM - Disease #4 OI IV
OMIM - Disease #5 EDS VIIA
OMIM - Disease #7 EDS I
GeneCards COL1A1
GeneTests COL1A1

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database.

Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share submitted data with external parties for research purposes or for sharing with other databases.