TTN c.5872C>T ;(p.Q1958*)

Variant ID: 2-179640719-G-A

NM_001267550.1(TTN):c.5872C>T;(p.Q1958*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03

Variant appearance in text: TTN: 5872C>T
PubMed Link: 29961767
Variant Present in the following documents:
  • nihms-1594241.pdf
View BVdb publication page



Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.

Science (New York, N.Y.)
Agrawal, Nishant N; Frederick, Mitchell J MJ; Pickering, Curtis R CR; Bettegowda, Chetan C; Chang, Kyle K; Li, Ryan J RJ; Fakhry, Carole C; Xie, Tong-Xin TX; Zhang, Jiexin J; Wang, Jing J; Zhang, Nianxiang N; El-Naggar, Adel K AK; Jasser, Samar A SA; Weinstein, John N JN; TreviƱo, Lisa L; Drummond, Jennifer A JA; Muzny, Donna M DM; Wu, Yuanqing Y; Wood, Laura D LD; Hruban, Ralph H RH; Westra, William H WH; Koch, Wayne M WM; Califano, Joseph A JA; Gibbs, Richard A RA; Sidransky, David D; Vogelstein, Bert B; Velculescu, Victor E VE; Papadopoulos, Nickolas N; Wheeler, David A DA; Kinzler, Kenneth W KW; Myers, Jeffrey N JN
Publication Date: 2011-08-26

Variant appearance in text: TMD: Q1958X
PubMed Link: 21798897
Variant Present in the following documents:
  • Main text
View BVdb publication page