SCN1A c.5390del ;(p.A1797Efs*4)

Variant ID: 2-166848395-TG-T

NM_001165963.1(SCN1A):c.5390del;(p.A1797Efs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Journal Of Clinical Neurology (Seoul, Korea)
Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC
Publication Date: 2018-01

Variant appearance in text: SCN1A: 5390delC; A1797EfsX4
PubMed Link: 29141279
Variant Present in the following documents:
  • Main text
  • jcn-14-22.pdf
View BVdb publication page