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SCN1A c.4179T>C ;(p.H1393=)
Variant ID: 2-166859087-A-G
NM_001165963.1(
SCN1A
):c.4179T>C;(p.H1393=)
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:
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: 4179T>C
PubMed Link:
33460646
Variant Present in the following documents:
main.pdf
View BVdb publication page