TTN c.49186G>T ;(p.E16396*)

Variant ID: 2-179478938-C-A

NM_001267550.1(TTN):c.49186G>T;(p.E16396*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Journal Of The American Heart Association
Ramchand, Jay J; Wallis, Mathew M; Macciocca, Ivan I; Lynch, Elly E; Farouque, Omar O; Martyn, Melissa M; Phelan, Dean D; Chong, Belinda B; Lockwood, Siobhan S; Weintraub, Robert R; Thompson, Tina T; Trainer, Alison A; Zentner, Dominica D; Vohra, Jitendra J; Chetrit, Michael M; Hare, David L DL; James, Paul P
Publication Date: 2020-01-21

Variant appearance in text: TTN: Glu16396*
PubMed Link: 31931689
Variant Present in the following documents:
  • Main text
  • JAH3-9-e013346.pdf
View BVdb publication page