LOVD GJB6 homepage

General information
Gene name gap junction protein, beta 6, 30kDa
Gene symbol GJB6
Chromosome Location 13q12
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the GJB6 database
Date of creation December 29, 2006
Last update April 29, 2010
Version GJB6 100429
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_000013.9
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 11
Total number of individuals with variant(s) 2
Total number of variants reported 12
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the GJB6 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 GJB6 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GJB6 database
Variants with no known pathogenicity Listing of all GJB6 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the GJB6 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
External link #1 Connexin-deafness Homepage
External link #2 Deafness Gene Mutation Database
External link #3 The Hereditary Hearing loss Homepage
External link #4 Reference mRNA NM_006783.2
External link #5 Reference protien NP_006774.2
Entrez Gene 10804
OMIM - Gene 604418
HGMD GJB6
GeneTests GJB6

For research use. Husami et al. 2006-2010