CTF1

This page contains an overview of the genetic variation in the CTF1 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:

CTF1 gene and transcript details

Gene Name
cardiotrophin 1

Gene Links
Ensembl: ENSG00000150281 - Locus Reference Genomic: LRG_408

Genomic Location
Chromosome 16 : 30,907,965 - 30,913,860 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (603 bases)Protein (201 aa)
ENST00000279804 ENSP00000279804
LRG_408t1LRG_408p1
NM_001330.3
Q16619

Summary of CTF1 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.001690.000460.12%
Truncating0.000000.00006-0.01%
Non-Truncating0.001690.000400.13%
Based on an analysis of rare variants (MAF<0.0001) in CTF1 detected in a cohort of 590 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


CTF1 variants in ExAC

Details of the protein-altering CTF1 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 Variants200.00032
Truncating20.00003
Missense150.00020
Inframe00.00000
Splice Site30.00009

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