SCN5A c.2374dup ;(p.S792Kfs*160)

Variant ID: 3-38628952-C-CT

NM_000335.4(SCN5A):c.2374dup;(p.S792Kfs*160)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Circulation. Genomic And Precision Medicine
Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER
Publication Date: 2020-12

Variant appearance in text: SCN5A: 2373_2374insA; S792Kfs*160
PubMed Link: 33164571
Variant Present in the following documents:
  • hcg-13-e002911-s001.pdf
View BVdb publication page



Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

European Journal Of Human Genetics : Ejhg
Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S
Publication Date: 2013-09

Variant appearance in text: SCN5A: 2374_2375insA
PubMed Link: 23321620
Variant Present in the following documents:
  • Main text
View BVdb publication page