SCN1A c.5590T>C ;(p.C1864R)

Variant ID: 2-166848195-A-G

NM_001165963.1(SCN1A):c.5590T>C;(p.C1864R)

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:

Sodium channel carboxyl-terminal residue regulates fast inactivation.

The Journal Of Biological Chemistry
Nguyen, Hai M HM; Goldin, Alan L AL
Publication Date: 2010-03-19

Variant appearance in text: SCN1A: C1864R
PubMed Link: 20089854
Variant Present in the following documents:
  • Main text
View BVdb publication page