SCN1A c.4507G>T ;(p.E1503*)

Variant ID: 2-166852597-C-A

NM_001165963.1(SCN1A):c.4507G>T;(p.E1503*)

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: 4507G>T; E1503X
PubMed Link: 33460646
Variant Present in the following documents:
  • main.pdf
View BVdb publication page