SCN5A c.1189A>T ;(p.I397F)

Variant ID: 3-38647591-T-A

NM_000335.4(SCN5A):c.1189A>T;(p.I397F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: I397F
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics
Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ
Publication Date: 2015-08

Variant appearance in text: SCN5A: I397F
PubMed Link: 25904541
Variant Present in the following documents:
  • Main text
View BVdb publication page