The 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-3, EDMD2, FPLD-2, HGPS, 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 1635
Unique public DNA variants reported 639
Individuals with public variants 1965
Hidden variants 42
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 September 17, 2021
Version LMNA:210917

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-3 (dystrophy, muscular, Emery-Dreifuss, type 3, autosomal recessive (EDMD-3))
EDMD2 (LGMD1B)
FPLD-2 (lipodystrophy, familial partial, type 2 (FPLD-2))
HGPS (syndrome, Hutchinson-Gilford progeria (HGPS))
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
HGMD LMNA
GeneCards LMNA
GeneTests LMNA
Orphanet LMNA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011445 1 transcript variant 1 NM_170707.3 NP_733821.1 1635


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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2000-2021. 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.

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