TTN c.3100G>A ;(p.V1034M)

Variant ID: 2-179647533-C-T

NM_001267550.1(TTN):c.3100G>A;(p.V1034M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

Journal Of Personalized Medicine
Martínez-Barrios, Estefanía E; Sarquella-Brugada, Georgia G; Pérez-Serra, Alexandra A; Fernández-Falgueras, Anna A; Cesar, Sergi S; Coll, Mónica M; Puigmulé, Marta M; Iglesias, Anna A; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; López, Laura L; Fiol, Victoria V; Cruzalegui, José J; Hernández, Clara C; Arbelo, Elena E; Grassi, Simone S; Oliva, Antonio A; Toro, Rocío R; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2022-02-08

Variant appearance in text: TTN: 3100G>A; Val1034Met; rs142951505
PubMed Link: 35207729
Variant Present in the following documents:
  • jpm-12-00241.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TTN: V1034M; rs142951505
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_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: 3100G>A; Val1034Met
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Bmc Medical Genetics
Khan, Amjad A; Wang, Rongrong R; Han, Shirui S; Umair, Muhammad M; Abbas, Safdar S; Khan, Muhammad Ismail MI; Alshabeeb, Mohammad A MA; Alfadhel, Majid M; Zhang, Xue X
Publication Date: 2019-10-29

Variant appearance in text: TTN: 3100G>A
PubMed Link: 31664938
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_895.pdf
View BVdb publication page



A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Intractable & Rare Diseases Research
Algahtani, Hussein H; Shirah, Bader B; Algahtani, Raghad R; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI
Publication Date: 2019-05

Variant appearance in text: TTN: 3100G>A
PubMed Link: 31218166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: TTN: 3100G>A; Val1034Met
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TTN: 3100G>A; Val1034Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: TTN: 3100G>A; V1034M; rs142951505
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Acta Neuropathologica
Vasli, Nasim N; Böhm, Johann J; Le Gras, Stéphanie S; Muller, Jean J; Pizot, Cécile C; Jost, Bernard B; Echaniz-Laguna, Andoni A; Laugel, Vincent V; Tranchant, Christine C; Bernard, Rafaelle R; Plewniak, Frédéric F; Vicaire, Serge S; Levy, Nicolas N; Chelly, Jamel J; Mandel, Jean-Louis JL; Biancalana, Valérie V; Laporte, Jocelyn J
Publication Date: 2012-08

Variant appearance in text: TTN: 3100G>A; Val1034Met
PubMed Link: 22526018
Variant Present in the following documents:
  • Main text
  • 401_2012_Article_982.pdf
  • 401_2012_982_MOESM1_ESM.pdf
  • 401_2012_982_MOESM4_ESM.pdf
View BVdb publication page