SCN1A c.4201G>C ;(p.E1401Q)

Variant ID: 2-166859065-C-G

NM_001165963.1(SCN1A):c.4201G>C;(p.E1401Q)

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:

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Frontiers In Neurology
Jang, Se Song SS; Kim, Soo Yeon SY; Kim, Hunmin H; Hwang, Hee H; Chae, Jong Hee JH; Kim, Ki Joong KJ; Kim, Jong-Il JI; Lim, Byung Chan BC
Publication Date: 2019

Variant appearance in text: SCN1A: 4201G>C; Glu1401Gln
PubMed Link: 31572294
Variant Present in the following documents:
  • Main text
  • fneur-10-00988.pdf
View BVdb publication page