SCN1A c.232G>A ;(p.E78K)

Variant ID: 2-166929900-C-T

NM_001165963.1(SCN1A):c.232G>A;(p.E78K)

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:

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology
Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E
Publication Date: 2021

Variant appearance in text: SCN1A: E78K
PubMed Link: 33841294
Variant Present in the following documents:
  • Main text
  • fneur-12-600050.pdf
View BVdb publication page