SCN5A c.1199G>C ;(p.G400A)

Variant ID: 3-38647581-C-G

NM_000335.4(SCN5A):c.1199G>C;(p.G400A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022

Variant appearance in text: SCN5A: Gly400Ala; rs199473106
PubMed Link: 35996667
Variant Present in the following documents:
  • Main text
  • peerj-10-13913.pdf
View BVdb publication page



Cellular Mechanisms of Sinus Node Dysfunction in Carriers of the SCN5A-E161K Mutation and Role of the H558R Polymorphism.

Frontiers In Physiology
Wilders, Ronald R
Publication Date: 2018

Variant appearance in text: SCN5A: G400A
PubMed Link: 30618807
Variant Present in the following documents:
  • Main text
  • fphys-09-01795.pdf
View BVdb publication page



Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: G400A
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

Indian Pacing And Electrophysiology Journal
Rangaraju, Advithi A; Krishnan, Shuba S; Aparna, G G; Sankaran, Satish S; Mannan, Ashraf U AU; Rao, B Hygriv BH
Publication Date: 2018

Variant appearance in text: SCN5A: G400A
PubMed Link: 29396286
Variant Present in the following documents:
  • Main text
  • main.pdf
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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association
Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D
Publication Date: 2016-07-05

Variant appearance in text: SCN5A: G400A
PubMed Link: 27381756
Variant Present in the following documents:
  • Main text
  • JAH3-5-e003379.pdf
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Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Frontiers In Physiology
Jagu, Benoît B; Charpentier, Flavien F; Toumaniantz, Gilles G
Publication Date: 2013-09-20

Variant appearance in text: SCN5A: G400A
PubMed Link: 24065925
Variant Present in the following documents:
  • Main text
  • fphys-04-00254.pdf
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Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.

Heart Rhythm
Crotti, Lia L; Hu, Dan D; Barajas-Martinez, Hector H; De Ferrari, Gaetano M GM; Oliva, Antonio A; Insolia, Roberto R; Pollevick, Guido D GD; Dagradi, Federica F; Guerchicoff, Alejandra A; Greco, Federica F; Schwartz, Peter J PJ; Viskin, Sami S; Antzelevitch, Charles C
Publication Date: 2012-07

Variant appearance in text: SCN5A: G400A
PubMed Link: 22338672
Variant Present in the following documents:
  • Main text
View BVdb publication page



SCN5A mutation associated with acute myocardial infarction.

Legal Medicine (Tokyo, Japan)
Oliva, Antonio A; Hu, Dan D; Viskin, Sami S; Carrier, Tabitha T; Cordeiro, Jonathan M JM; Barajas-Martinez, Hector H; Wu, Yusheng Y; Burashnikov, Elena E; Brugada, Ramon R; Rosso, Rafael R; Guerchicoff, Alexandra A; Pollevick, Guido G; Pascali, Vincenzo L VL; Antzelevitch, Charlie C
Publication Date: 2009-04

Variant appearance in text: SCN5A: G400A
PubMed Link: 19345130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.

Journal Of Electrocardiology
Hu, Dan D; Viskin, Sami S; Oliva, Antonio A; Cordeiro, Jonathan M JM; Guerchicoff, Alejandra A; Pollevick, Guido D GD; Antzelevitch, Charles C
Publication Date: 2007

Variant appearance in text: SCN5A: G400A
PubMed Link: 17993325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.

Heart Rhythm
Hu, Dan D; Viskin, Sami S; Oliva, Antonio A; Carrier, Tabitha T; Cordeiro, Jonathan M JM; Barajas-Martinez, Hector H; Wu, Yuesheng Y; Burashnikov, Elena E; Sicouri, Serge S; Brugada, Ramon R; Rosso, Rafael R; Guerchicoff, Alejandra A; Pollevick, Guido D GD; Antzelevitch, Charles C
Publication Date: 2007-08

Variant appearance in text: SCN5A: G400A
PubMed Link: 17675083
Variant Present in the following documents:
  • Main text
View BVdb publication page