TTN c.66695T>A ;(p.V22232E)

Variant ID: 2-179446300-A-T

NM_001267550.1(TTN):c.66695T>A;(p.V22232E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Making sense of missense variants in TTN-related congenital myopathies.

Acta Neuropathologica
Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M
Publication Date: 2021-03

Variant appearance in text: TTN: Val22232Glu
PubMed Link: 33449170
Variant Present in the following documents:
  • Main text
  • 401_2020_Article_2257.pdf
View BVdb publication page



Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases
Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2016-08-30

Variant appearance in text: TTN: 66695T>A
PubMed Link: 27854229
Variant Present in the following documents:
  • Main text
  • jnd-3-jnd160158.pdf
View BVdb publication page



Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Human Molecular Genetics
Chauveau, Claire C; Bonnemann, Carsten G CG; Julien, Cedric C; Kho, Ay Lin AL; Marks, Harold H; Talim, Beril B; Maury, Philippe P; Arne-Bes, Marie Christine MC; Uro-Coste, Emmanuelle E; Alexandrovich, Alexander A; Vihola, Anna A; Schafer, Sebastian S; Kaufmann, Beth B; Medne, Livija L; Hübner, Norbert N; Foley, A Reghan AR; Santi, Mariarita M; Udd, Bjarne B; Topaloglu, Haluk H; Moore, Steven A SA; Gotthardt, Michael M; Samuels, Mark E ME; Gautel, Mathias M; Ferreiro, Ana A
Publication Date: 2014-02-15

Variant appearance in text: TTN: Val22232Glu
PubMed Link: 24105469
Variant Present in the following documents:
  • Main text
View BVdb publication page