TTN c.91669C>T ;(p.R30557*)

Variant ID: 2-179414896-G-A

NM_001267550.1(TTN):c.91669C>T;(p.R30557*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TTN: 91669C>T; Arg30557Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine
Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-06-16

Variant appearance in text: TTN: Arg30557Ter
PubMed Link: 34135346
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_211.pdf
  • 41525_2021_211_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes
Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P
Publication Date: 2020-05-11

Variant appearance in text: TTN: 91669C>T; Arg30557*
PubMed Link: 32403337
Variant Present in the following documents:
  • genes-11-00539-s001.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: TTN: R30557X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page