SCN5A c.2482C>G ;(p.L828V)

Variant ID: 3-38627487-G-C

NM_000335.4(SCN5A):c.2482C>G;(p.L828V)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Clinical and genetic spectrum of neonatal arrhythmia in a NICU.

Translational Pediatrics
Dai, Yi Y; Yin, Rong R; Yang, Lin L; Li, Zhi-Hua ZH
Publication Date: 2021-10

Variant appearance in text: SCN5A: 2482C>G; L828V
PubMed Link: 34765466
Variant Present in the following documents:
  • tp-10-10-2432-supplementary.pdf
View BVdb publication page


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: L828V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fphar-11-00550.pdf
View BVdb publication page