TTN c.101479C>T ;(p.R33827C)

Variant ID: 2-179399863-G-A

NM_001267550.1(TTN):c.101479C>T;(p.R33827C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: TTN: R33827C; rs372067498
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05

Variant appearance in text: TTN: 101479C>T; Arg33827Cys
PubMed Link: 33500567
Variant Present in the following documents:
  • 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: TTN: 101479C>T; R33827C
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page