Bibliome.ai browser hg19
Search
About
Stats
FAQ
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