KLF10

This page contains an overview of the genetic variation in the KLF10 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:

KLF10 gene and transcript details

Gene Name
Kruppel-like factor 10

Gene Links
Ensembl: ENSG00000155090 - Locus Reference Genomic:

Genomic Location
Chromosome 8 : 103,662,360 - 103,667,829 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1440 bases)Protein (480 aa)
ENST00000285407 ENSP00000285407
NM_005655.2
Q13118

Summary of KLF10 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of KLF10 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


KLF10 variants in ExAC

Details of the protein-altering KLF10 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 Variants1630.00254
Truncating80.00008
Missense1480.00233
Inframe10.00002
Splice Site60.00011

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