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
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 1025
Unique public DNA variants reported 452
Individuals with public variants 1566
Hidden variants 7
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 February 05, 2019
Version LMNA:190205

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
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)
HGMD LMNA
GeneCards LMNA
GeneTests LMNA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011445 1 transcript variant 1 NM_170707.3 NP_733821.1 1025


Copyright & disclaimer
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