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
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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
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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)
HGMD L1CAM
External link #1 Orphanet
External link #2 University Medical Center Groningen L1CAM Mutation Database

Copyright & disclaimer
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