LOVD MYO7A homepage

General information
Gene name myosin VIIA
Gene symbol MYO7A
Chromosome Location 11q13.5
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the MYO7A database
Date of creation December 29, 2006
Last update July 12, 2013
Version MYO7A130712
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 152
Total number of individuals with variant(s) 3
Total number of variants reported 160
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MYO7A 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
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MYO7A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MYO7A database
Variants with no known pathogenicity Listing of all MYO7A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the MYO7A 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 Retinal and hearing impairment genetic mutation database
External link #2 Deafness Gene Mutation Database
External link #3 The Hereditary Hearing loss Homepage
External link #4 Mutations of the Myosin VIIa Gene Retina International
External link #5 The UMD MYO7A mutations database A.-F. Roux and D. Baux
External link #6 Reference mRNA NM_000260.1
External link #7 Reference protien NP_000251.1
Entrez Gene 4647
OMIM - Gene 276903
HGMD MYO7A
GeneCards MYO7A
GeneTests MYO7A

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 © 2014. 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.

For research use. Husami et al. 2006-2010