TTN c.1703T>C ;(p.V568A)

Variant ID: 2-179655532-A-G

NM_001267550.1(TTN):c.1703T>C;(p.V568A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: TTN: 1703T>C
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

American Journal Of Human Genetics
Schwartz, Charles E CE; May, Melanie M MM; Carpenter, Nancy J NJ; Rogers, R Curtis RC; Martin, Judith J; Bialer, Martin G MG; Ward, Jewell J; Sanabria, Javier J; Marsa, Silvana S; Lewis, James A JA; Echeverri, Roberto R; Lubs, Herbert A HA; Voeller, Kytja K; Simensen, Richard J RJ; Stevenson, Roger E RE
Publication Date: 2005-07

Variant appearance in text:
PubMed Link: 15889350
Variant Present in the following documents:
  • Main text
View BVdb publication page