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SCN5A c.3250G>C ;(p.G1084R)
Variant ID: 3-38620962-C-G
NM_000335.4(
SCN5A
):c.3250G>C;(p.G1084R)
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:
SCN5A Variants: Association With Cardiac Disorders.
Frontiers In Physiology
Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A
Publication Date: 2018
Variant appearance in text: LQT3: 3250G>C
PubMed Link:
30364184
Variant Present in the following documents:
Main text
fphys-09-01372.pdf
View BVdb publication page