TNNT2 c.472C>T ;(p.R158W)

Variant ID: 1-201333443-G-A

NM_001276345.1(TNNT2):c.472C>T;(p.R158W)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: TNNT2: R158W; rs730881123
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association
Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP
Publication Date: 2022-10-04

Variant appearance in text: TNNT2: 472C>T; R158X
PubMed Link: 36129056
Variant Present in the following documents:
  • JAH3-11-e025257-s001.pdf
  • JAH3-11-e025257.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: TNNT2: 472C>T; Arg158Trp
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine
Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L
Publication Date: 2021-06-14

Variant appearance in text: rs730881123
PubMed Link: 34127679
Variant Present in the following documents:
  • 41525_2021_204_MOESM1_ESM.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TNNT2: R158W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy.

Scientific Reports
Zhang, Xin-Lin XL; Xie, Jun J; Lan, Rong-Fang RF; Kang, Li-Na LN; Wang, Lian L; Xu, Wei W; Xu, Biao B
Publication Date: 2020-02-10

Variant appearance in text: TNNT2: R158W; rs730881123
PubMed Link: 32041989
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_58984.pdf
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: TNNT2: 472C>T; Arg158Trp; rs730881123
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page