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SCN5A c.5797_5798delinsGC ;(p.S1933A)
Variant ID: 3-38592062-CT-GC
NM_000335.4(
SCN5A
):c.5797_5798delinsGC;(p.S1933A)
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:
C-terminal phosphorylation of NaV1.5 impairs FGF13-dependent regulation of channel inactivation.
The Journal Of Biological Chemistry
Burel, Sophie S; Coyan, Fabien C FC; Lorenzini, Maxime M; Meyer, Matthew R MR; Lichti, Cheryl F CF; Brown, Joan H JH; Loussouarn, Gildas G; Charpentier, Flavien F; Nerbonne, Jeanne M JM; Townsend, R Reid RR; Maier, Lars S LS; Marionneau, CĂ©line C
Publication Date: 2017-10-20
Variant appearance in text: LQT3: S1933A
PubMed Link:
28882890
Variant Present in the following documents:
Main text
View BVdb publication page