LOVD L1CAM homepage

General information
Gene name L1 cell adhesion molecule
Gene symbol L1CAM
Chromosome Location Xq28
Database location grenada.lumc.nl
Curator Yvonne Vos
PubMed references View all (unique) PubMed references in the L1CAM database
Date of creation August 13, 2009
Last update November 12, 2009
Version L1CAM091112
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
GenBank reference NM_000425
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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).

Graphical displays and utilities
Summary tables Summary of all sequence variants in the L1CAM database, sorted by type of variant (with graphical displays and statistics)

Links to other resources
HGNC 6470
Entrez Gene 3897
OMIM - Gene 308840
OMIM - Disease #1 X-linked hydrocephalus (HSAS)
OMIM - Disease #2 MASA Syndrome
OMIM - Disease #3 X-linked corpus callosum agenesis (ACC)
External link #1 Orphanet
External link #2 University Medical Center Groningen L1CAM Mutation Database

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 © 2019. 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.