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SCN5A c.5047T>C ;(p.W1683R)
Variant ID: 3-38592813-A-G
NM_000335.4(
SCN5A
):c.5047T>C;(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