LMNA gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol LMNA
Gene name lamin A/C
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference LRG_254
Transcript reference NM_170707.3
Exon/intron information NM_170707.3 exon/intron table
Associated with diseases CMD-1A, CMT-2B1, EDMD-2, EDMD-3, FPLD-2, HGPS, LGMD-1B, MADA, cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome), dermopathy, restrictive, lethal, dystrophy, muscular, congenital, LMNA-related, syndrome, heart-hand, Slovenian type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 1359
Unique public DNA variants reported 573
Individuals with public variants 1716
Hidden variants 50
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
Date created September 23, 2000
Date last updated March 23, 2020
Version LMNA:200323

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_170707.3.
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 http://www.DMD.nl/lmna_home.html
External URL IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 6636
Entrez Gene 4000
PubMed articles LMNA
OMIM - Gene 150330
OMIM - Diseases CMD-1A (cardiomyopathy, dilated, type 1A (CMD-1A))
CMT-2B1 (Charcot-Marie-Tooth disease, type 2B1 (CMT-2B1))
EDMD-2 (dystrophy, muscular, Emery-Dreifuss, type 2 (EDMD-2))
EDMD-3 (dystrophy, muscular, Emery-Dreifuss, type 3, autosomal recessive (EDMD-3))
FPLD-2 (lipodystrophy, familial partial, type 2 (FPLD-2))
HGPS (syndrome, Hutchinson-Gilford progeria (HGPS))
LGMD-1B (dystrophy, muscular, limb-girdle, type 1B (LGMD-1B))
MADA (dysplasia, mandibuloacral, with type A lipodystrophy (MADA))
cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)
dermopathy, restrictive, lethal
dystrophy, muscular, congenital, LMNA-related
syndrome, heart-hand, Slovenian type (syndrome, heart-hand, Sloveni)
GeneCards LMNA
GeneTests LMNA

Active transcripts




NCBI ID     

NCBI Protein ID     

00011445 1 transcript variant 1 NM_170707.3 NP_733821.1 1359

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 © 2000-2020. 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.