LAMA4

This page contains an overview of the genetic variation in the LAMA4 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:

LAMA4 gene and transcript details

Gene Name
laminin, alpha 4

Gene Links
Ensembl: ENSG00000112769 - Locus Reference Genomic: LRG_433

Genomic Location
Chromosome 6 : 112,430,640 - 112,575,352 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (5448 bases)Protein (1816 aa)
ENST00000424408 ENSP00000416470
LRG_433t2LRG_433p2
NM_002290.3

Summary of LAMA4 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.049590.022822.68%
Truncating0.000000.00102-0.10%
Non-Truncating0.049590.021802.78%
Based on an analysis of rare variants (MAF<0.0001) in LAMA4 detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


LAMA4 variants in ExAC

Details of the protein-altering LAMA4 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 VariantsCombined frequency of rare variants
All Variants7880.01262
Truncating410.00051
Missense6510.01079
Inframe30.00011
Splice Site930.00121

Rare variants are defined as having a mean allelic frequency of less than 0.0001.