TTN c.4715G>T ;(p.R1572L)

Variant ID: 2-179641975-C-A

NM_001267550.1(TTN):c.4715G>T;(p.R1572L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

Nature Communications
Young, William J WJ; Haessler, Jeffrey J; Benjamins, Jan-Walter JW; Repetto, Linda L; Yao, Jie J; Isaacs, Aaron A; Harper, Andrew R AR; Ramirez, Julia J; Garnier, Sophie S; van Duijvenboden, Stefan S; Baldassari, Antoine R AR; Concas, Maria Pina MP; Duong, ThuyVy T; Foco, Luisa L; Isaksen, Jonas L JL; Mei, Hao H; Noordam, Raymond R; Nursyifa, Casia C; Richmond, Anne A; Santolalla, Meddly L ML; Sitlani, Colleen M CM; Soroush, Negin N; Thériault, Sébastien S; Trompet, Stella S; Aeschbacher, Stefanie S; Ahmadizar, Fariba F; Alonso, Alvaro A; Brody, Jennifer A JA; Campbell, Archie A; Correa, Adolfo A; Darbar, Dawood D; De Luca, Antonio A; Deleuze, Jean-François JF; Ellervik, Christina C; Fuchsberger, Christian C; Goel, Anuj A; Grace, Christopher C; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Jackson, Rebecca D RD; Kors, Jan A JA; Lima-Costa, Maria Fernanda MF; Linneberg, Allan A; Macfarlane, Peter W PW; Morrison, Alanna C AC; Navarro, Pau P; Porteous, David J DJ; Pramstaller, Peter P PP; Reiner, Alexander P AP; Risch, Lorenz L; Schotten, Ulrich U; Shen, Xia X; Sinagra, Gianfranco G; Soliman, Elsayed Z EZ; Stoll, Monika M; Tarazona-Santos, Eduardo E; Tinker, Andrew A; Trajanoska, Katerina K; Villard, Eric E; Warren, Helen R HR; Whitsel, Eric A EA; Wiggins, Kerri L KL; Arking, Dan E DE; Avery, Christy L CL; Conen, David D; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Olesen, Morten Salling MS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Pattaro, Cristian C; Ribeiro, Antonio Luiz P ALP; Rotter, Jerome I JI; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James G JG; Orini, Michele M; Charron, Philippe P; Watkins, Hugh H; Kooperberg, Charles C; Lin, Henry J HJ; Wilson, James F JF; Kanters, Jørgen K JK; Sotoodehnia, Nona N; Mifsud, Borbala B; Lambiase, Pier D PD; Tereshchenko, Larisa G LG; Munroe, Patricia B PB
Publication Date: 2023-03-14

Variant appearance in text: TTN: 4715G>T; Arg1572Leu; rs12476289
PubMed Link: 36918541
Variant Present in the following documents:
  • 41467_2023_36997_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

Nature Communications
Young, William J WJ; Lahrouchi, Najim N; Isaacs, Aaron A; Duong, ThuyVy T; Foco, Luisa L; Ahmed, Farah F; Brody, Jennifer A JA; Salman, Reem R; Noordam, Raymond R; Benjamins, Jan-Walter JW; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Repetto, Linda L; Concas, Maria Pina MP; van den Berg, Marten E ME; Weiss, Stefan S; Baldassari, Antoine R AR; Bartz, Traci M TM; Cook, James P JP; Evans, Daniel S DS; Freudling, Rebecca R; Hines, Oliver O; Isaksen, Jonas L JL; Lin, Honghuang H; Mei, Hao H; Moscati, Arden A; Müller-Nurasyid, Martina M; Nursyifa, Casia C; Qian, Yong Y; Richmond, Anne A; Roselli, Carolina C; Ryan, Kathleen A KA; Tarazona-Santos, Eduardo E; Thériault, Sébastien S; van Duijvenboden, Stefan S; Warren, Helen R HR; Yao, Jie J; Raza, Dania D; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Alonso, Alvaro A; Andreasen, Laura L; Bis, Joshua C JC; Boerwinkle, Eric E; Campbell, Archie A; Catamo, Eulalia E; Cocca, Massimiliano M; Cutler, Michael J MJ; Darbar, Dawood D; De Grandi, Alessandro A; De Luca, Antonio A; Ding, Jun J; Ellervik, Christina C; Ellinor, Patrick T PT; Felix, Stephan B SB; Froguel, Philippe P; Fuchsberger, Christian C; Gögele, Martin M; Graff, Claus C; Graff, Mariaelisa M; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Huang, Paul L PL; Huikuri, Heikki V HV; Hutri-Kähönen, Nina N; Ikram, M Arfan MA; Jackson, Rebecca D RD; Junttila, Juhani J; Kavousi, Maryam M; Kors, Jan A JA; Leal, Thiago P TP; Lemaitre, Rozenn N RN; Lin, Henry J HJ; Lind, Lars L; Linneberg, Allan A; Liu, Simin S; MacFarlane, Peter W PW; Mangino, Massimo M; Meitinger, Thomas T; Mezzavilla, Massimo M; Mishra, Pashupati P PP; Mitchell, Rebecca N RN; Mononen, Nina N; Montasser, May E ME; Morrison, Alanna C AC; Nauck, Matthias M; Nauffal, Victor V; Navarro, Pau P; Nikus, Kjell K; Pare, Guillaume G; Patton, Kristen K KK; Pelliccione, Giulia G; Pittman, Alan A; Porteous, David J DJ; Pramstaller, Peter P PP; Preuss, Michael H MH; Raitakari, Olli T OT; Reiner, Alexander P AP; Ribeiro, Antonio Luiz P ALP; Rice, Kenneth M KM; Risch, Lorenz L; Schlessinger, David D; Schotten, Ulrich U; Schurmann, Claudia C; Shen, Xia X; Shoemaker, M Benjamin MB; Sinagra, Gianfranco G; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Stoll, Monika M; Strauch, Konstantin K; Tarasov, Kirill K; Taylor, Kent D KD; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Weng, Lu-Chen LC; Whitsel, Eric A EA; Wilson, James G JG; Avery, Christy L CL; Conen, David D; Correa, Adolfo A; Cucca, Francesco F; Dörr, Marcus M; Gharib, Sina A SA; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jamshidi, Yalda Y; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lima-Costa, Maria Fernanda MF; Liu, Yongmei Y; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; O'Connell, Jeffrey R JR; Olesen, Morten Salling MS; Orini, Michele M; Padmanabhan, Sandosh S; Pattaro, Cristian C; Peters, Annette A; Psaty, Bruce M BM; Rotter, Jerome I JI; Stricker, Bruno B; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James F JF; Arking, Dan E DE; Ramirez, Julia J; Lambiase, Pier D PD; Sotoodehnia, Nona N; Mifsud, Borbala B; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Publication Date: 2022-09-01

Variant appearance in text: rs12476289
PubMed Link: 36050321
Variant Present in the following documents:
  • 41467_2022_32821_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One
Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J
Publication Date: 2021

Variant appearance in text: rs12476289
PubMed Link: 34919578
Variant Present in the following documents:
  • Main text
  • pone.0261572.pdf
View BVdb publication page



In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One
Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J
Publication Date: 2021

Variant appearance in text: rs12476289
PubMed Link: 34919578
Variant Present in the following documents:
  • Main text
  • pone.0261572.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: rs12476289
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs12476289
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs12476289
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs12476289
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.

Circulation. Cardiovascular Genetics
Marroni, Fabio F; Pfeufer, Arne A; Aulchenko, Yurii S YS; Franklin, Christopher S CS; Isaacs, Aaron A; Pichler, Irene I; Wild, Sarah H SH; Oostra, Ben A BA; Wright, Alan F AF; Campbell, Harry H; Witteman, Jacqueline C JC; Kääb, Stefan S; Hicks, Andrew A AA; Gyllensten, Ulf U; Rudan, Igor I; Meitinger, Thomas T; Pattaro, Cristian C; van Duijn, Cornelia M CM; Wilson, James F JF; Pramstaller, Peter P PP; ,
Publication Date: 2009-08

Variant appearance in text: rs12476289
PubMed Link: 20031603
Variant Present in the following documents:
  • Main text
View BVdb publication page