SCN1A c.4427A>G ;(p.N1476S)

Variant ID: 2-166854597-T-C

NM_001165963.1(SCN1A):c.4427A>G;(p.N1476S)

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:

Fatal Status Epilepticus in Dravet Syndrome.

Brain Sciences
De Liso, Paola P; Pironi, Virginia V; Mastrangelo, Massimo M; Battaglia, Domenica D; Craiu, Dana D; Trivisano, Marina M; Specchio, Nicola N; Nabbout, Rima R; Vigevano, Federico F
Publication Date: 2020-11-23

Variant appearance in text: SCN1A: 4427A>G; Asn1476Ser
PubMed Link: 33238377
Variant Present in the following documents:
  • Main text
  • brainsci-10-00889.pdf
View BVdb publication page