SCN5A c.2291T>A ;(p.M764K)

Variant ID: 3-38629036-A-T

NM_000335.4(SCN5A):c.2291T>A;(p.M764K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.

Journal Of The American Heart Association
Aizawa, Yoshiyasu Y; Fujisawa, Taishi T; Katsumata, Yoshinori Y; Kohsaka, Shun S; Kunitomi, Akira A; Ohno, Seiko S; Sonoda, Keiko K; Hayashi, Hidemori H; Hojo, Rintaro R; Fukamizu, Seiji S; Nagase, Satoshi S; Ito, Shogo S; Nakajima, Kazuaki K; Nishiyama, Takahiko T; Kimura, Takehiro T; Kurita, Yasuo Y; Furukawa, Yoshiko Y; Takatsuki, Seiji S; Ogawa, Satoshi S; Nakazato, Yuji Y; Sumiyoshi, Masataka M; Kosaki, Kenjiro K; Horie, Minoru M; Fukuda, Keiichi K
Publication Date: 2018-09-18

Variant appearance in text: SCN5A: 2291T>A; Met764Lys
PubMed Link: 30371189
Variant Present in the following documents:
  • Main text
  • JAH3-7-e009387.pdf
View BVdb publication page