FXN

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

FXN gene and transcript details

Gene Name
frataxin

Gene Links
Ensembl: ENSG00000165060 - Locus Reference Genomic: LRG_339

Genomic Location
Chromosome 9 : 71,650,699 - 71,687,678 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (630 bases)Protein (210 aa)
ENST00000377270 ENSP00000366482
LRG_339t1LRG_339p1
NM_000144.4
Q16595

Summary of FXN in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of FXN in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


FXN variants in ExAC

Details of the protein-altering FXN 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 Variants630.00089
Truncating10.00009
Missense520.00064
Inframe00.00000
Splice Site100.00021

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