|
This database has been established by the Growth Consortium. The variants we have collected can be visualised without registration, just follow the links on these pages (for an explanation regarding all possibilities see Documentation). Note that the database contains much more information (esp. regarding the phenotype) then displayed. Part of this non-public data can be queried, retrieving the number of records fulfilling your query (see Search through hidden entries and Documentation). To get actual access to the non-public data you have to contact the curator(s).
When you study the genes we cover, please consider to become an active collaborator, register as submitter, login and submit the patients/variants you have studied. Note that these databases have most value when really ALL variants are reported.
| General information |
| Gene name |
Growth Hormone Receptor |
| Gene symbol |
GHR |
| Chromosome Location |
5p13-p12 |
| Database location |
chromium.liacs.nl |
| Curator |
MO Savage, Ron Rosenfeld and Vivian Hwa |
| PubMed references |
View all (unique) PubMed references in the GHR database |
| Date of creation |
June 01, 2008 |
| Last update |
September 06, 2009 |
| Version |
GHR090906 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
coding DNA reference sequence for describing sequence variants |
| GenBank reference |
GHR_NG011688.1.gb |
| Transcript refseq ID |
NM_000163.2 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
56 |
| Total number of individuals with variant(s) |
135 |
| Total number of variants reported |
174 |
| Subscribe to updates of this gene |
 |
| NOTE |
This database has been established with the help of the Patricia Willemse, student of the Hogeschool Leiden. |
| 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 |
| 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 © 2013. 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. |
|
|
