SCN5A c.4708T>C ;(p.F1570L)

Variant ID: 3-38595872-A-G

NM_000335.4(SCN5A):c.4708T>C;(p.F1570L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report.

Frontiers In Cardiovascular Medicine
Nijak, Aleksandra A; Labro, Alain J AJ; De Wilde, Hans H; Dewals, Wendy W; Peigneur, Steve S; Tytgat, Jan J; Snyders, Dirk D; Sieliwonczyk, Ewa E; Simons, Eline E; Van Craenenbroeck, Emeline E; Schepers, Dorien D; Van Laer, Lut L; Saenen, Johan J; Loeys, Bart B; Alaerts, Maaike M
Publication Date: 2020

Variant appearance in text: rs1369632373
PubMed Link: 32850980
Variant Present in the following documents:
  • Main text
  • fcvm-07-00117.pdf
View BVdb publication page