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SCN5A c.1750G>A ;(p.G584S)
Variant ID: 3-38645343-C-T
NM_000335.4(
SCN5A
):c.1750G>A;(p.G584S)
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:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: SCN5A: G584S
PubMed Link:
32431610
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
fphar-11-00550.pdf
View BVdb publication page