LOVD OTOF homepage

General information
Gene name otoferlin
Gene symbol OTOF
Chromosome Location 2p23.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the OTOF database
Date of creation December 29, 2006
Last update April 29, 2010
Version OTOF100429
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000002.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 65
Total number of individuals with variant(s) 3
Total number of variants reported 71
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the OTOF 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 OTOF database, without patient data
Complete sequence variant listing Listing of all sequence variants in the OTOF database
Variants with no known pathogenicity Listing of all OTOF variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the OTOF 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 9381
OMIM - Gene 603681
GeneTests OTOF
External link #1 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 Reference mRNA NM_194248.1
External link #4 Reference protien NP_919224.1
External link #5 SIFT predictions precomputed Apr 2010
External link #6 ConSeq predictions precomputed Apr 2010

For research use. Husami et al. 2006-2010