TTN c.3010G>T ;(p.E1004*)

Variant ID: 2-179647623-C-A

NM_001267550.1(TTN):c.3010G>T;(p.E1004*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: TTN: 3010G>T; Glu1004Ter
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Frontiers In Cardiovascular Medicine
Rueda, Manuel M; Wagner, Jennifer L JL; Phillips, Tierney C TC; Topol, Sarah E SE; Muse, Evan D ED; Lucas, Jonathan R JR; Wagner, Glenn N GN; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2017

Variant appearance in text: TTN: 3010G>T
PubMed Link: 29181379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Molecular Genetics & Genomic Medicine
Nouhravesh, Nina N; Ahlberg, Gustav G; Ghouse, Jonas J; Andreasen, Charlotte C; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Weeke, Peter E PE; Olesen, Morten S MS
Publication Date: 2016-11

Variant appearance in text: TTN: 3010G>T
PubMed Link: 27896284
Variant Present in the following documents:
  • MGG3-4-617.pdf
View BVdb publication page