SCN5A c.5270del ;(p.I1757Tfs*29)

Variant ID: 3-38592590-GA-G

NM_000335.4(SCN5A):c.5270del;(p.I1757Tfs*29)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

Jacc. Clinical Electrophysiology
Begay, Rene L RL; Graw, Sharon L SL; Sinagra, Gianfranco G; Asimaki, Angeliki A; Rowland, Teisha J TJ; Slavov, Dobromir B DB; Gowan, Katherine K; Jones, Kenneth L KL; Brun, Francesca F; Merlo, Marco M; Miani, Daniela D; Sweet, Mary M; Devaraj, Kalpana K; Wartchow, Eric P EP; Gigli, Marta M; Puggia, Ilaria I; Salcedo, Ernesto E EE; Garrity, Deborah M DM; Ambardekar, Amrut V AV; Buttrick, Peter P; Reece, T Brett TB; Bristow, Michael R MR; Saffitz, Jeffrey E JE; Mestroni, Luisa L; Taylor, Matthew R G MRG
Publication Date: 2018-04

Variant appearance in text: SCN5A: 5270delT
PubMed Link: 30067491
Variant Present in the following documents:
  • Main text
  • nihms963402.pdf
View BVdb publication page