LAMA3 gene homepage

General information
Gene symbol LAMA3
Gene name laminin, alpha 3
Chromosome 18
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_007853.2
Transcript reference NM_198129.1
Exon/intron information NM_198129.1 exon/intron table
Associated with diseases LOCS, epidermolysis bullosa, junctional, Herlitz type, epidermolysis bullosa, junctional, non-Herlitz type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 45
Unique public DNA variants reported 44
Individuals with public variants 4
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated December 14, 2018
Version LAMA3:181214

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_198129.1.
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 https://www.LOVD.nl/LAMA3
External URL Orphanet
HGNC 6483
Entrez Gene 3909
PubMed articles LAMA3
OMIM - Gene 600805
OMIM - Diseases LOCS (laryngoonychocutaneous syndrome (LOCS))
epidermolysis bullosa, junctional, Herlitz type
epidermolysis bullosa, junctional, non-Herlitz type
HGMD LAMA3
GeneCards LAMA3
GeneTests LAMA3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025347 18 transcript variant 1 NM_198129.1 NP_937762.1 45


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.