LOVD FAM3A homepage

General information
Gene name family with sequence similarity 3, member A
Gene symbol FAM3A
Chromosome Location Xq28
Database location www.LOVD.nl/MR
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the FAM3A database
Date of creation March 06, 2009
Last update October 24, 2010
Version FAM3A101024
Add sequence variant Submit a sequence variant
First time submitters Register here
GenBank reference NM_021806
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 1
Total number of variants reported 1
Subscribe to updates of this gene
NOTE 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of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished).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 nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the FAM3A database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the FAM3A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FAM3A database
Variants with no known pathogenicity Listing of all FAM3A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 13749
Entrez Gene 60343
OMIM - Gene 300492
External link Orphanet