LOVD CLRN1 homepage

General information
Gene name USH3A clarin 1
Gene symbol CLRN1
Chromosome Location 3q25
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the CLRN1 database
Date of creation December 20, 2006
Last update April 21, 2010
Version CLRN1 100421
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000003.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 9
Total number of individuals with variant(s) 1
Total number of variants reported 9
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CLRN1 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 CLRN1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CLRN1 database
Variants with no known pathogenicity Listing of all CLRN1 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 7401
OMIM - Gene 606397
GeneTests CLRN1
External link #1 The UMD USH3A database
External link #2 Retinal and hearing impairment genetic mutation database
External link #3 Reference mRNA NM_174878.2
External link #4 Reference protien NP_777367.1

For research use. Husami et al. 2006-2010