LOVD USH2A homepage

General information
Gene name Usher syndrome 2A (autosomal recessive, mild)
Gene symbol USH2A
Chromosome Location 1q41
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the USH2A database
Date of creation December 20, 2006
Last update April 23, 2010
Version USH2A100423
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000001.9
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 148
Total number of individuals with variant(s) 2
Total number of variants reported 148
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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

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
Entrez Gene 7399
OMIM - Gene 608400
UniProtKB (SwissProt/TrEMBL) O75445
GeneCards USH2A
GeneTests USH2A
External link #1 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 The UMD USH2A database
External link #4 Retinal and hearing impairment genetic mutation database
External link #5 Reference mRNA NM_007123.4
External link #6 Reference protien NP_009054.4

For research use. Husami et al. 2006-2010