L1CAM gene homepage

General information
Gene symbol L1CAM
Gene name L1 cell adhesion molecule
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_009645.2
Transcript reference NM_024003.2
Associated with diseases ID, MASA, agenesis, corpus callosum, partial, X-linked, Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (Hydrocephalus with Hirschsprung disease)
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 0
Date created September 13, 2012
Date last updated October 24, 2015
Version L1CAM:151024

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 6470
Entrez Gene 3897
PubMed articles L1CAM
OMIM - Gene 308840
OMIM - Diseases MASA (MASA syndrome (CRASH syndrome (MASA)))
agenesis, corpus callosum, partial, X-linked
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (Hydrocephalus with Hirschsprung disease)
GeneCards L1CAM
GeneTests L1CAM

Active transcripts




NCBI ID     

NCBI Protein ID     

00000671 X transcript variant 2 NM_024003.2 NP_076493.1 4

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