TNNC1

This page contains an overview of the genetic variation in the TNNC1 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:

TNNC1 gene and transcript details

Gene Name
troponin C type 1 (slow)

Gene Links
Ensembl: ENSG00000114854 - Locus Reference Genomic: LRG_378

Genomic Location
Chromosome 3 : 52,485,291 - 52,488,031 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (483 bases)Protein (161 aa)
ENST00000232975 ENSP00000232975
LRG_378t1LRG_378p1
NM_003280.2
P63316

Summary of TNNC1 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of TNNC1 in HCM (see study in the European Heart Journal), it is classified as: Weak Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarTypeDCM FreqExAC FreqCase Excess
All0.019230.000601.86%
Truncating0.000000.00004-0.00%
Non-Truncating0.019230.000541.87%
Based on an analysis of rare variants (MAF<0.0001) in TNNC1 detected in a cohort of 156 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


TNNC1 variants in ExAC

Details of the protein-altering TNNC1 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 Variants480.00050
Truncating20.00002
Missense300.00027
Inframe00.00000
Splice Site160.00021

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