SCN1A c.4852G>A ;(p.G1618S)

Variant ID: 2-166850656-C-T

NM_001165963.1(SCN1A):c.4852G>A;(p.G1618S)

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:

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Frontiers In Neurology
Sparber, Peter P; Mikhaylova, Svetlana S; Galkina, Varvara V; Itkis, Yulia Y; Skoblov, Mikhail M
Publication Date: 2021

Variant appearance in text: SCN1A: 4852G>A
PubMed Link: 34938262
Variant Present in the following documents:
  • Main text
  • fneur-12-761892.pdf
View BVdb publication page