LMNA
This page contains an overview of the genetic variation in the LMNA gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
LMNA gene and transcript details
Gene Name
lamin A/C
Gene Links
Ensembl: ENSG00000160789 -
Locus Reference Genomic: LRG_254
Genomic Location
Chromosome 1 : 156,084,710 - 156,108,897 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1992 bases) | Protein (664 aa) |
|---|---|---|
 |
ENST00000368300 | ENSP00000357283 |
 |
LRG_254t2 | LRG_254p2 |
 |
NM_170707.3 | |
 |
Summary of LMNA in Cardiomyopathies
DCM - Dilated Cardiomyopathy - explore in detail| VarType | DCM Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| All | 0.04406 | 0.00622 | 3.78% |
| Truncating | 0.01533 | 0.00014 | 1.52% |
| Non-Truncating | 0.02874 | 0.00608 | 2.27% |
ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail
| VarType | ARVC Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| All | 0.00000 | 0.00622 | -0.62% |
| Truncating | 0.00000 | 0.00014 | -0.01% |
| Non-Truncating | 0.00000 | 0.00608 | -0.61% |
HCM - Hypertrophic Cardiomyopathy - explore in detail
Based on a detailed analysis of the role of LMNA in HCM (see study in the
European Heart Journal),
it is classified as:
No Evidence.
LMNA variants in ExAC
Details of the protein-altering LMNA variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 199 | 0.00359 |
| Truncating | 3 | 0.00007 |
| Missense | 171 | 0.00304 |
| Inframe | 1 | 0.00001 |
| Splice Site | 24 | 0.00047 |