||leucine-rich repeats and calponin homology (CH) domain containing 2|
||LOVD-team, but with Curator vacancy|
||View all (unique) PubMed references in the LRCH2 database|
|Date of creation
||March 06, 2009|
||October 24, 2010|
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||Submit a sequence variant|
|First time submitters
|Transcript refseq ID
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
|Subscribe to updates of this gene
||The gene sequence variant databases (LSDBs) at these pages have been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. For reasons of privacy, only summary data from this paper are present in the databases.|
Detailed haplotypes are available to researchers upon request, after signing a transfer agreement; contact Lucy Raymond (flr24 @ cam.ac.uk).
Although we have initiated these databases, they are too many to be regularly updated and curated by us. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl).
In the coming months we will try to update the databases by adding data retrieved from other public repositories (dbSNP, OMIM, literature, etc.).
In addition we will contact people that may have already established LSDBs for any of these genes and suggest joining efforts - we have no intention to duplicate work. Furthermore, we will invite researchers that we consider as potential curators - when you receive such a request, please give a positive reply!
The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
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