SCN1A c.4497del ;(p.F1499Lfs*2)

Variant ID: 2-166852606-TA-T

NM_001165963.1(SCN1A):c.4497del;(p.F1499Lfs*2)

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:

Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients.

European Journal Of Neurology
Schoonjans, A A; Paelinck, B P BP; Marchau, F F; Gunning, B B; Gammaitoni, A A; Galer, B S BS; Lagae, L L; Ceulemans, B B
Publication Date: 2017-02

Variant appearance in text: SCN1A: 4497delT
PubMed Link: 27790834
Variant Present in the following documents:
  • Main text
  • ENE-24-309.pdf
View BVdb publication page