LOVD L1CAM homepage

General information
Gene name L1 CELL ADHESION MOLECULE
Gene symbol L1CAM
Chromosome Location Xq28
Database location NGRL, Manchester
Curator Bharathi Kattamuri and Simon Ramsden
PubMed references View all (unique) PubMed references in the L1CAM database
Date of creation August 19, 2009
Last update March 02, 2012
Version L1CAM120302
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GenBank reference 221316755
Total number of unique DNA variants reported 92
Total number of individuals with variant(s) 101
Total number of variants reported 101
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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)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the L1CAM database, without patient data
Complete sequence variant listing Listing of all sequence variants in the L1CAM database
Variants with no known pathogenicity Listing of all L1CAM 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

Links to other resources
HGNC 6470
Entrez Gene 3897
OMIM - Gene 308840
HGMD L1CAM
GeneTests L1CAM

Copyright & disclaimer
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