TTN c.69717T>A ;(p.Y23239*)

Variant ID: 2-179441142-A-T

NM_001267550.1(TTN):c.69717T>A;(p.Y23239*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Journal Of The American College Of Cardiology
Khera, Amit V AV; Mason-Suares, Heather H; Brockman, Deanna D; Wang, Minxian M; VanDenburgh, Martin J MJ; Senol-Cosar, Ozlem O; Patterson, Candace C; Newton-Cheh, Christopher C; Zekavat, Seyedeh M SM; Pester, Julie J; Chasman, Daniel I DI; Kabrhel, Christopher C; Jensen, Majken K MK; Manson, JoAnn E JE; Gaziano, J Michael JM; Taylor, Kent D KD; Sotoodehnia, Nona N; Post, Wendy S WS; Rich, Stephen S SS; Rotter, Jerome I JI; Lander, Eric S ES; Rehm, Heidi L HL; Ng, Kenney K; Philippakis, Anthony A; Lebo, Matthew M; Albert, Christine M CM; Kathiresan, Sekar S
Publication Date: 2019-11-26

Variant appearance in text: TTN: Tyr23239Ter
PubMed Link: 31727422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: TTN: Y23239*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page