TTN c.95135G>A ;(p.C31712Y)

Variant ID: 2-179410828-C-T

NM_001267550.1(TTN):c.95135G>A;(p.C31712Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Internal Medicine (Tokyo, Japan)
Sano, Yasuteru Y; Ota, Satoko S; Oishi, Mariko M; Honda, Masaya M; Omoto, Masatoshi M; Kawai, Motoharu M; Okubo, Mariko M; Nishino, Ichizo I; Kanda, Takashi T
Publication Date: 2022-05-15

Variant appearance in text: TTN: C31712Y
PubMed Link: 34670883
Variant Present in the following documents:
  • Main text
  • 1349-7235-61-1587.pdf
View BVdb publication page



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: Cys31712Tyr
PubMed Link: 33449170
Variant Present in the following documents:
  • Main text
  • 401_2020_Article_2257.pdf
View BVdb publication page



Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Journal Of Neurology
Palmio, Johanna J; Leonard-Louis, Sarah S; Sacconi, Sabrina S; Savarese, Marco M; Penttilä, Sini S; Semmler, Anna-Lena AL; Kress, Wolfram W; Mozaffar, Tahseen T; Lai, Tim T; Stojkovic, Tanya T; Berardo, Andres A; Reisin, Ricardo R; Attarian, Shahram S; Urtizberea, Andoni A; Cobo, Ana Maria AM; Maggi, Lorenzo L; Kurbatov, Sergei S; Nikitin, Sergei S; Milisenda, José C JC; Fatehi, Farzad F; Raimondi, Monika M; Silveira, Fernando F; Hackman, Peter P; Claeys, Kristl G KG; Udd, Bjarne B
Publication Date: 2019-03

Variant appearance in text: TTN: 95135G>A; C31712Y
PubMed Link: 30666435
Variant Present in the following documents:
  • Main text
  • 415_2019_Article_9187.pdf
View BVdb publication page