SCN5A c.773T>C ;(p.V258A)

Variant ID: 3-38651386-A-G

NM_000335.4(SCN5A):c.773T>C;(p.V258A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: SCN5A: V258A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: SCN5A: V258A
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page