TTN c.57603C>A ;(p.C19201*)

Variant ID: 2-179460478-G-T

NM_001267550.1(TTN):c.57603C>A;(p.C19201*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01

Variant appearance in text: TTN: 57603C>A; Cys19201X
PubMed Link: 34495297
Variant Present in the following documents:
  • jamacardiol-e213370-s001.pdf
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: TTN: C19201X
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page