SCN5A c.1641A>G ;(p.E547=)

Variant ID: 3-38645452-T-C

NM_000335.4(SCN5A):c.1641A>G;(p.E547=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 1641A>G; E547E; rs749857735
PubMed Link: 27554632
Variant Present in the following documents:
  • Main text
View BVdb publication page