SCN5A c.1195C>T ;(p.L399=)

Variant ID: 3-38647585-G-A

NM_000335.4(SCN5A):c.1195C>T;(p.L399=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm
Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C
Publication Date: 2010-12

Variant appearance in text: SCN5A: 1195C>T; L399F
PubMed Link: 20817017
Variant Present in the following documents:
  • Main text
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