TTN c.63023C>T ;(p.T21008I)

Variant ID: 2-179453429-G-A

NM_001267550.1(TTN):c.63023C>T;(p.T21008I)

This variant was identified in 7 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: 63023C>T; Thr21008Ile
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020

Variant appearance in text: TTN: 63023C>T; Thr21008Ile
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Neuromuscular Disorders : Nmd
Lim, Albert Z AZ; McMacken, Grace G; Rastelli, Francesca F; Oláhová, Monika M; Baty, Karen K; Hopton, Sila S; Falkous, Gavin G; Töpf, Ana A; Lochmüller, Hanns H; Marini-Bettolo, Chiara C; McFarland, Robert R; Taylor, Robert W RW
Publication Date: 2020-08

Variant appearance in text: TTN: Thr21008Ile
PubMed Link: 32684384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine
Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2019-12-17

Variant appearance in text: TTN: 63023C>T; Thr21008Ile; rs72646850
PubMed Link: 31847883
Variant Present in the following documents:
  • 13073_2019_702_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: TTN: T21008I; rs72646850
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: TTN: 63023C>T; Thr21008Ile
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page