TTN c.5419C>T ;(p.P1807S)

Variant ID: 2-179641172-G-A

NM_001267550.1(TTN):c.5419C>T;(p.P1807S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: TTN: 5419C>T; Pro1807Ser
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 3
View BVdb publication page



Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.

Clinical Cardiology
Chen, Kai K; Song, Jiangping J; Wang, Zhen Z; Rao, Man M; Chen, Liang L; Hu, Shengshou S
Publication Date: 2018-05

Variant appearance in text: TTN: 5419C>T; P1807S
PubMed Link: 29750433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology
Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW
Publication Date: 2014-11-27

Variant appearance in text: TTN: P1807S
PubMed Link: 25428177
Variant Present in the following documents:
  • 40360_2014_350_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page