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SCN5A c.739G>T ;(p.V247L)
Variant ID: 3-38651420-C-A
NM_000335.4(
SCN5A
):c.739G>T;(p.V247L)
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:
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: LQT3: V247L
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page