SCN1A c.5236G>T ;(p.V1746F)

Variant ID: 2-166848549-C-A

NM_001165963.1(SCN1A):c.5236G>T;(p.V1746F)

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:

Dravet syndrome in South African infants: Tools for an early diagnosis.

Seizure
Esterhuizen, Alina I AI; Mefford, Heather C HC; Ramesar, Rajkumar S RS; Wang, Shuyu S; Carvill, Gemma L GL; Wilmshurst, Jo M JM
Publication Date: 2018-11

Variant appearance in text: SCN1A: 5236G>T
PubMed Link: 30321769
Variant Present in the following documents:
  • Main text
View BVdb publication page