The L1CAM gene homepage

General information
Gene symbol L1CAM
Gene name L1 cell adhesion molecule
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_000425.4
Exon/intron information NM_000425.4 exon/intron table
Associated with diseases agenesis..., HSAS, ID, MASA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 116
Unique public DNA variants reported 102
Individuals with public variants 194
Hidden variants 5
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated November 27, 2023
Version L1CAM:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000425.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6470
Entrez Gene 3897
PubMed articles L1CAM
OMIM - Gene 308840
OMIM - Diseases agenesis... (agenesis, corpus callosum, partial)
HSAS (hydrocephalus, with congenital stenosis of aqueduct of Sylvis (HSAS, hydrocephalus with Hirschsprung disease))
MASA (MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs)
GeneCards L1CAM
GeneTests L1CAM
Orphanet L1CAM

Active transcripts




NCBI ID     

NCBI Protein ID     

00025606 X transcript variant 1 NM_000425.4 NP_000416.1 116

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