TTN c.84263G>A ;(p.S28088N)

Variant ID: 2-179426596-C-T

NM_001267550.1(TTN):c.84263G>A;(p.S28088N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: TTN: S28088N; rs200450022
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weiss, Karin K; Kruszka, Paul P; Guillen Sacoto, Maria J MJ; Addissie, Yonit A YA; Hadley, Donald W DW; Hadsall, Casey K CK; Stokes, Bethany B; Hu, Ping P; Roessler, Erich E; Solomon, Beth B; Wiggs, Edythe E; Thurm, Audrey A; Hufnagel, Robert B RB; Zein, Wadih M WM; Hahn, Jin S JS; Stashinko, Elaine E; Levey, Eric E; Baldwin, Debbie D; Clegg, Nancy J NJ; Delgado, Mauricio R MR; Muenke, Maximilian M
Publication Date: 2018-01

Variant appearance in text: TTN: 84263G>A; S28088N
PubMed Link: 28640243
Variant Present in the following documents:
  • gim201768x1.xlsx, sheet 1
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: 84263G>A; S28088N
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page