SCN5A c.5284G>T ;(p.V1762L)

Variant ID: 3-38592576-C-A

NM_000335.4(SCN5A):c.5284G>T;(p.V1762L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Early somatic mosaicism is a rare cause of long-QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Priest, James Rush JR; Gawad, Charles C; Kahlig, Kristopher M KM; Yu, Joseph K JK; O'Hara, Thomas T; Boyle, Patrick M PM; Rajamani, Sridharan S; Clark, Michael J MJ; Garcia, Sarah T K ST; Ceresnak, Scott S; Harris, Jason J; Boyle, Sean S; Dewey, Frederick E FE; Malloy-Walton, Lindsey L; Dunn, Kyla K; Grove, Megan M; Perez, Marco V MV; Neff, Norma F NF; Chen, Richard R; Maeda, Katsuhide K; Dubin, Anne A; Belardinelli, Luiz L; West, John J; Antolik, Christian C; Macaya, Daniela D; Quertermous, Thomas T; Trayanova, Natalia A NA; Quake, Stephen R SR; Ashley, Euan A EA
Publication Date: 2016-10-11

Variant appearance in text: SCN5A: 5284G>T
PubMed Link: 27681629
Variant Present in the following documents:
  • Main text
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