SCN1A c.2088_2091del ;(p.F697Tfs*7)

Variant ID: 2-166898886-GGAAA-G

NM_001165963.1(SCN1A):c.2088_2091del;(p.F697Tfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Journal Of Epilepsy Research
Ko, Young Jun YJ; Yoo, Il Han IH; Lee, Jiwon J; Lee, Jeehun J; Yum, Mi-Sun MS; Ko, Tae-Sung TS; Kim, Hunmin H; Hwang, Hee H; Kim, Soo Yeon SY; Chae, Jong-Hee JH; Choi, Ji-Eun JE; Kim, Ki Joong KJ; Lim, Byung Chan BC
Publication Date: 2021-12

Variant appearance in text: SCN1A: 2088_2091del; Phe697Thrfs*7
PubMed Link: 35087721
Variant Present in the following documents:
  • jer-21019.pdf
View BVdb publication page