LOVD CDH23 homepage

General information
Gene name cadherin-like 23
Gene symbol CDH23
Chromosome Location 10q21-q22
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the CDH23 database
Date of creation December 20, 2006
Last update April 27, 2011
Version CDH23 110427
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 159
Total number of individuals with variant(s) 2
Total number of variants reported 193
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CDH23 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 CDH23 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CDH23 database
Variants with no known pathogenicity Listing of all CDH23 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 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 Mutations of the Cadherin-related Protein 23 Gene Retina International
External link #4 The UMD CDH23 mutations database A.-F. Roux and D. Baux
External link #5 Retinal and hearing impairment genetic mutation database
External link #6 Reference mRNA NM_022124.2
External link #7 Reference protien NP_071407.2
Entrez Gene 64072
OMIM - Gene 605516
UniProtKB (SwissProt/TrEMBL) Q9H251
HGMD CDH23
GeneCards CDH23
GeneTests CDH23

For research use. Husami et al. 2006-2010