SCN5A c.1234del ;(p.V412Sfs*58)

Variant ID: 3-38647545-AC-A

NM_000335.4(SCN5A):c.1234del;(p.V412Sfs*58)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The use of noninvasive ECG imaging for examination of a patient with Brugada syndrome.

Heartrhythm Case Reports
Chaykovskaya, Maria M; Rudic, Boris B; Tsyganov, Alexey A; Zaklyazminskaya, Elena E; Yakovleva, Marina M; Borggrefe, Martin M
Publication Date: 2015-07

Variant appearance in text: SCN5A: 1233del
PubMed Link: 28491563
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Simultaneous Non-Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms.

Journal Of The American Heart Association
Rudic, Boris B; Chaykovskaya, Maria M; Tsyganov, Alexey A; Kalinin, Vitaly V; Tülümen, Erol E; Papavassiliu, Theano T; Dösch, Christina C; Liebe, Volker V; Kuschyk, Jürgen J; Röger, Susanne S; El-Battrawy, Ibrahim I; Akin, Ibrahim I; Yakovleva, Marina M; Zaklyazminskaya, Elena E; Shestak, Anna A; Kim, Stanislav S; Chmelevsky, Mikhail M; Borggrefe, Martin M
Publication Date: 2016-11-14

Variant appearance in text: SCN5A: 1233del
PubMed Link: 27930354
Variant Present in the following documents:
  • Main text
  • JAH3-5-e004095.pdf
View BVdb publication page