SCN1A c.3867_3869del ;(p.F1289del)

Variant ID: 2-166868628-TAAG-T

NM_001165963.1(SCN1A):c.3867_3869del;(p.F1289del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022

Variant appearance in text: SMEI: 3867_3869delCTT
PubMed Link: 35571373
Variant Present in the following documents:
  • Main text
  • fnmol-15-821012.pdf
View BVdb publication page



Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Tang, Bin B; Sheng, Wen-Xiang WX; Hua, Li-Dong LD; Zeng, Yang Y; Fan, Cui-Xia CX; Deng, Wei-Yi WY; Gao, Mei-Mei MM; Zhu, Wei-Wen WW; He, Na N; Su, Tao T
Publication Date: 2022

Variant appearance in text: SCN1A: F1289del
PubMed Link: 35359575
Variant Present in the following documents:
  • Main text
  • fnmol-15-828846.pdf
View BVdb publication page