SCN1A c.4562_4563del ;(p.K1521Tfs*15)

Variant ID: 2-166852541-GCT-G

NM_001165963.1(SCN1A):c.4562_4563del;(p.K1521Tfs*15)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 4562_4563del
PubMed Link: 29142202
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_15814.pdf
View BVdb publication page