LOVD-USHBases

LOVD USH2A homepage

General information
Gene name Usher syndrome 2A
Gene symbol USH2A
Chromosome Location 1q41
Database location grenada.lumc.nl
Curator david baux
PubMed references View all (unique) PubMed references in the USH2A database
Date of creation February 12, 2010
Last update June 27, 2016
Version USH2A160627
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_009497.1
Transcript refseq ID NM_206933.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1050
Total number of individuals with variant(s) 1708
Total number of variants reported 10567
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If you wish to perform particular analyses, do not hesitate to contact us.
We hope that you will find these databases useful!
Montpellier Usher Group
Please note that you can directly access the USH2A database using the following URL:

http://www.lovd.nl/USH2A

To properly acknowledge LOVD-USHBases, please cite Roux et al., 2011


Last paper:Jiang et al., 2015


Graphical displays and utilities
Summary tables Summary of all sequence variants in the USH2A 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 USH2A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the USH2A database
Variants with no known pathogenicity Listing of all USH2A 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
HGNC 12601
Entrez Gene 7399
OMIM - Gene 608400
OMIM - Disease #1 USHER SYNDROME, TYPE IIA
OMIM - Disease #2 RETINITIS PIGMENTOSA
UniProtKB (SwissProt/TrEMBL) O75445
GeneCards USH2A
GeneTests USH2A
External link #1 Orphanet
External link #2 KMeyeDB
External link #3 CCMHC Molecular Genetics Laboratory Mutation Database
External link #4 USMA (Usher Syndrome Missense Analysis)
External link #5 Deafness Variation Database

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 © 2011. 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.

Right to access and correct
In accordance with the French law of the 6th January 1978, modified in 2004, you have the right to access and correct any personal data present in this website. Please contact the curator.
CNIL identification number 1653971.