TTN c.72586C>T ;(p.R24196C)

Variant ID: 2-179438273-G-A

NM_001267550.1(TTN):c.72586C>T;(p.R24196C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16

Variant appearance in text: TTN: R24196C; rs185626486
PubMed Link: 33796225
Variant Present in the following documents:
  • oncotarget-12-578-s005.xlsx, sheet 1
View BVdb publication page



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: 72586C>T; Arg24196Cys
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 4
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TTN: R24196C
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page