USH2A gene homepage


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
General information
Gene symbol USH2A
Gene name Usher syndrome 2A (autosomal recessive, mild)
Chromosome 1
Chromosomal band q41
Imprinted Unknown
Genomic reference NG_009497.1
Transcript reference NM_206933.2
Exon/intron information NM_206933.2 exon/intron table
Associated with diseases RP, RP-39, USH, USH-2, USH-2A
Citation reference(s) Roux 2011
Refseq URL Genomic reference sequence
Curators (1) David Baux
Total number of public variants reported 9452
Unique public DNA variants reported 1274
Individuals with public variants 3505
Hidden variants 403
Download all this gene's data Download all data
Notes The database is curated by the Montpellier Usher group.
You can directly access the USH2A database using: www.LOVD.nl/USH2A
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created February 12, 2010
Date last updated March 03, 2019
Version USH2A:190303

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_206933.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/USH2A
External URL Orphanet
KMeyeDB
USMA (Usher Syndrome Missense Analysis)
Deafness Variation Database
MoBiDiC
HGNC 12601
Entrez Gene 7399
PubMed articles USH2A
OMIM - Gene 608400
OMIM - Diseases RP-39 (retinitis pigmentosa, type 39 (RP-39))
USH-2A (Usher syndrome, type 2A (USH-2A))
HGMD USH2A
GeneCards USH2A
GeneTests USH2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000008 1 Usher syndrome 2A (autosomal recessive, mild), transcript variant 2 NM_206933.2 NP_996816.2 9452


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 © 2010-2019. 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.