SCN1A c.5170G>A ;(p.A1724T)

Variant ID: 2-166848615-C-T

NM_001165963.1(SCN1A):c.5170G>A;(p.A1724T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.

Frontiers In Neurology
Liu, Xianyu X; Shen, Qiyang Q; Zheng, Guo G; Guo, Hu H; Lu, Xiaopeng X; Wang, Xiaoyu X; Yang, Xiao X; Cao, Zixuan Z; Chen, Jing J
Publication Date: 2021

Variant appearance in text: SCN1A: 5170G>A
PubMed Link: 34163418
Variant Present in the following documents:
  • Main text
  • fneur-12-633637.pdf
View BVdb publication page



Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Scientific Reports
Yang, Xiaoxu X; Liu, Aijie A; Xu, Xiaojing X; Yang, Xiaoling X; Zeng, Qi Q; Ye, Adam Yongxin AY; Yu, Zhe Z; Wang, Sheng S; Huang, August Yue AY; Wu, Xiru X; Wu, Qixi Q; Wei, Liping L; Zhang, Yuehua Y
Publication Date: 2017-11-15

Variant appearance in text: SCN1A: 5170G>A
PubMed Link: 29142202
Variant Present in the following documents:
  • 41598_2017_15814_MOESM1_ESM.pdf
View BVdb publication page