The USH1C gene homepage
 
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
| General information |
| Gene symbol |
USH1C |
| Gene name |
Usher syndrome 1C (autosomal recessive, severe) |
| Chromosome |
11 |
| Chromosomal band |
p14.3 |
| Imprinted |
Unknown |
| Genomic reference |
NG_011883.1 |
| Transcript reference |
NM_153676.3 |
| Exon/intron information |
NM_153676.3 exon/intron table |
| Associated with diseases |
DFN, DFNB, DFNB18A, USH, USH1, USH1C |
| Citation reference(s) |
PubMed: Roux 2011 |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
David Baux |
| Total number of public variants reported |
609 |
| Unique public DNA variants reported |
228 |
| Individuals with public variants |
291 |
| Hidden variants |
18 |
| Download all this gene's data |
Download all data |
| Notes |
The database is curated by the Montpellier Usher group.
You can directly access the USH1C database using: www.LOVD.nl/USH1C
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 01, 2010 |
| Date last updated |
April 19, 2024 |
| Version |
USH1C:240419 |
Active transcripts
| 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 © 2010-2024. 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. |
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