LOVD USH1G homepage

General information
Gene name Usher syndrome 1G (autosomal recessive)
Gene symbol USH1G
Chromosome Location 17q25.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the USH1G database
Date of creation December 20, 2006
Last update April 21, 2010
Version USH1G100421
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000017.9
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 1
Total number of variants reported 3
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the USH1G 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 USH1G database, without patient data
Complete sequence variant listing Listing of all sequence variants in the USH1G database
Variants with no known pathogenicity Listing of all USH1G 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
External link #1 The UMD USH1G database
External link #2 Retinal and hearing impairment genetic mutation database
External link #3 Reference mRNA NM_173477.2
External link #4 Reference protien NP_775748.2
Entrez Gene 124590
OMIM - Gene 607696
UniProtKB (SwissProt/TrEMBL) Q495M9
HGMD USH1G
GeneCards USH1G
GeneTests USH1G

For research use. Husami et al. 2006-2010