LOVD PCDH15 homepage

General information
Gene name protocadherin 15
Gene symbol PCDH15
Chromosome Location 10p11.2-q21
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the PCDH15 database
Date of creation December 20, 2006
Last update June 30, 2010
Version PCDH15 100630
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_000010.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 45
Total number of individuals with variant(s) 2
Total number of variants reported 45
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PCDH15 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 PCDH15 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PCDH15 database
Variants with no known pathogenicity Listing of all PCDH15 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the PCDH15 database in tab-delimited text format.

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 65217
OMIM - Gene 605514
UniProtKB (SwissProt/TrEMBL) Q96QU1
GeneCards PCDH15
GeneTests PCDH15
External link #1 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 The UMD database
External link #4 Retinal and hearing impairment genetic mutation database
External link #5 Reference mRNA NM_033056.2
External link #6 Reference protien NP_149045.2

For research use. Husami et al. 2006-2010