The GJB1 gene homepage

General information
Gene symbol GJB1
Gene name gap junction protein, beta 1, 32kDa
Chromosome X
Chromosomal band q13.1
Imprinted Unknown
Genomic reference LRG_245
Transcript reference NM_001097642.2
Associated with diseases HMSN
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 34
Unique public DNA variants reported 34
Individuals with public variants 34
Hidden variants -
Date created December 23, 2014
Date last updated May 24, 2017
Version GJB1:170524

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL LRG_245
HGNC 4283
Entrez Gene 2705
PubMed articles GJB1
OMIM - Gene 304040
HGMD GJB1
GeneCards GJB1
GeneTests GJB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000074 X transcript variant 1 NM_001097642.2 NP_001091111.1 34


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.