SCN5A c.1538G>C ;(p.R513P)

Variant ID: 3-38645555-C-G

NM_000335.4(SCN5A):c.1538G>C;(p.R513P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal Of Clinical Medicine
Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B
Publication Date: 2020-07-09

Variant appearance in text: SCN5A: 1538G>C; Arg513Pro
PubMed Link: 32659924
Variant Present in the following documents:
  • Main text
  • jcm-09-02168.pdf
View BVdb publication page