The 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_000425.3, NM_001143963.1, NM_001278116.1, 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)	Johan T. den Dunnen
Total number of public variants reported	133
Unique public DNA variants reported	23
Individuals with public variants	18
Hidden variants	11
Date created	December 09, 2013
Date last updated	September 23, 2016
Version	L1CAM:160923

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
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	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)
HGMD	L1CAM
GeneCards	L1CAM
GeneTests	L1CAM

Active transcripts

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00031524	X	Manually created transcript	NM_001278116.1	-	133
00017748	X	Manually created transcript. (expired, new version available)	NM_000425.3	-	13
00017749	X	Manually created transcript. (expired, new version available)	NM_001143963.1	-	13
00017750	X	Manually created transcript. (expired, new version available)	NM_024003.2	-	13

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L1CAM (L1 cell adhesion molecule)