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SCN5A c.290A>T ;(p.N97I)
Variant ID: 3-38671904-T-A
NM_000335.4(
SCN5A
):c.290A>T;(p.N97I)
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:
Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report.
International Journal Of Molecular Sciences
Chazin, Walter J WJ; Johnson, Christopher N CN
Publication Date: 2020-02-19
Variant appearance in text: LQT3: N97I
PubMed Link:
32093079
Variant Present in the following documents:
Main text
ijms-21-01418.pdf
View BVdb publication page
Human Calmodulin Mutations.
Frontiers In Molecular Neuroscience
Jensen, Helene H HH; Brohus, Malene M; Nyegaard, Mette M; Overgaard, Michael T MT
Publication Date: 2018
Variant appearance in text: SCN5A: N97I
PubMed Link:
30483049
Variant Present in the following documents:
Main text
fnmol-11-00396.pdf
View BVdb publication page