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SCN1A c.4208A>G ;(p.N1403S)
Variant ID: 2-166859058-T-C
NM_001165963.1(
SCN1A
):c.4208A>G;(p.N1403S)
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:
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Plos One
Toyama, Miho M; Takasaki, Yuto Y; Branko, Aleksic A; Kimura, Hiroki H; Kato, Hidekazu H; Nawa, Yoshihiro Y; Kushima, Itaru I; Ishizuka, Kanako K; Shimamura, Teppei T; Ogi, Tomoo T; Ozaki, Norio N
Publication Date: 2022
Variant appearance in text: SCN1A: N1403S
PubMed Link:
35536790
Variant Present in the following documents:
pone.0268321.s003.xlsx, sheet 1
View BVdb publication page
Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria.
The Journal Of Biological Chemistry
DeKeyser, Jean-Marc JM; Thompson, Christopher H CH; George, Alfred L AL
Publication Date: 2021
Variant appearance in text: SCN1A: 4208A>G
PubMed Link:
33460646
Variant Present in the following documents:
main.pdf
View BVdb publication page