LOVD USH1C homepage

General information
Gene name Usher syndrome 1C (autosomal recessive, severe)
Gene symbol USH1C
Chromosome Location 11p15.1-p14
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the USH1C database
Date of creation November 04, 2008
Last update April 23, 2010
Version USH1C100423
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NC_000011.8
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 21
Total number of individuals with variant(s) 2
Total number of variants reported 21
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the USH1C 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 USH1C database, without patient data
Complete sequence variant listing Listing of all sequence variants in the USH1C database
Variants with no known pathogenicity Listing of all USH1C 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 10083
OMIM - Gene 605242
UniProtKB (SwissProt/TrEMBL) Q9Y6N9
GeneCards USH1C
GeneTests USH1C
External link #1 The UMD database
External link #2 Retinal and hearing impairment genetic mutation database

For research use. Husami et al. 2006-2010