SCN5A c.5047T>A ;(p.W1683R)

Variant ID: 3-38592813-A-T

NM_000335.4(SCN5A):c.5047T>A;(p.W1683R)

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:

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Frontiers In Synaptic Neuroscience
Striessnig, Jörg J
Publication Date: 2021

Variant appearance in text: Nav1.5: W1683R
PubMed Link: 33746731
Variant Present in the following documents:
  • Main text
  • fnsyn-13-634760.pdf
View BVdb publication page