FHL1

This page contains an overview of the genetic variation in the FHL1 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:

FHL1 gene and transcript details

Gene Name
four and a half LIM domains 1

Gene Links
Ensembl: ENSG00000022267 - Locus Reference Genomic:

Genomic Location
Chromosome X : 135,288,592 - 135,292,184 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (840 bases)	Protein (280 aa)
	ENST00000370690	ENSP00000359724

	NM_001449.4

Summary of FHL1 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of FHL1 in HCM (see study in the European Heart Journal), it is classified as: Strong Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00123	-0.12%
Truncating	0.00000	0.00%
Non-Truncating	0.00123	-0.12%

Based on an analysis of rare variants (MAF<0.0001) in FHL1 detected in a cohort of 355 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

FHL1 variants in ExAC

Details of the protein-altering FHL1 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	72	0.00115
Truncating	0	nan
Missense	50	0.00085
Inframe	0	0.00000
Splice Site	22	0.00030

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