SCN5A c.1575C>T ;(p.S525=)

Variant ID: 3-38645518-G-A

NM_000335.4(SCN5A):c.1575C>T;(p.S525=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SCN5A: 1575C>T; S525S
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.

Journal Of Clinical Laboratory Analysis
Priganc, Mariana M; Zigová, Michaela M; Boroňová, Iveta I; Bernasovská, Jarmila J; Dojčáková, Dana D; Szabadosová, Viktória V; Mydlárová Blaščáková, Marta M; Tóthová, Iveta I; Kmec, Ján J; Bernasovský, Ivan I
Publication Date: 2017-03

Variant appearance in text: SCN5A: 1575C>T; S525S; rs370684004
PubMed Link: 27554632
Variant Present in the following documents:
  • Main text
View BVdb publication page