TTN c.66703G>A ;(p.V22235I)

Variant ID: 2-179446292-C-T

NM_001267550.1(TTN):c.66703G>A;(p.V22235I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G
Publication Date: 2021-07

Variant appearance in text: TTN: 66703G>A; Val22235Ile
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances
Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL
Publication Date: 2020

Variant appearance in text: TTN: V22235I
PubMed Link: 32743548
Variant Present in the following documents:
  • vdaa078_suppl_supplementary_table_4.xlsx, sheet 5
  • vdaa078_suppl_supplementary_table_7.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: TTN: V22235I
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 14
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: TTN: V22235I
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page