SCN1A c.4871T>G ;(p.L1624R)

Variant ID: 2-166848914-A-C

NM_001165963.1(SCN1A):c.4871T>G;(p.L1624R)

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:

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function.

Frontiers In Pharmacology
Jones, Laura B LB; Peters, Colin H CH; Rosch, Richard E RE; Owers, Maxine M; Hughes, Elaine E; Pal, Deb K DK; Ruben, Peter C PC
Publication Date: 2021

Variant appearance in text: SCN1A: 4871T>G
PubMed Link: 34925043
Variant Present in the following documents:
  • Main text
  • fphar-12-788192.pdf
View BVdb publication page