DFNB31 gene homepage


This database is one of the ”Retinal and hearing impairment genetic variant databases”.NOTE: gene name changed from DFNB31 to WHRN.
General information
Gene symbol DFNB31
Gene name deafness, autosomal recessive 31
Chromosome 9
Chromosomal band q32
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_015404.3
Exon/intron information NM_015404.3 exon/intron table
Associated with diseases DFNB-31, USH-2D
Citation reference(s) Roux 2011
Refseq URL Genomic reference sequence
Curators (1) David Baux
Total number of public variants reported 178
Unique public DNA variants reported 93
Individuals with public variants 1083
Hidden variants 0
Download all this gene's data Download all data
Notes NOTE: gene name changed from DFNB31 to WHRN.
The database is curated by the Montpellier Usher group.
You can directly access the WHRN database using: www.LOVD.nl/WHRN
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 02, 2010
Date last updated October 21, 2018
Version DFNB31:181021

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015404.3.
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
Homepage URL https://www.LOVD.nl/WHRN
External URL Orphanet
KMeyeDB
CCMHC Molecular Genetics Laboratory Mutation Database
USMA (Usher Syndrome Missense Analysis)
Deafness Variation Database
MoBiDiC
HGNC 16361
Entrez Gene 25861
PubMed articles DFNB31
OMIM - Gene 607928
OMIM - Diseases DFNB-31 (deafness, autosomal recessive, type 31 (DFNB-31))
USH-2D (Usher syndrome, type 2D (USH-2D))
HGMD DFNB31
GeneCards DFNB31
GeneTests DFNB31


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006350 9 transcript variant 1 NM_015404.3 NP_056219.3 178


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2018. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.