SCN1A c.2678T>A ;(p.L893*)

Variant ID: 2-166894554-A-T

NM_001165963.1(SCN1A):c.2678T>A;(p.L893*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Human Mutation
Xu, Xiaojing X; Yang, Xiaoxu X; Wu, Qixi Q; Liu, Aijie A; Yang, Xiaoling X; Ye, Adam Yongxin AY; Huang, August Yue AY; Li, Jiarui J; Wang, Meng M; Yu, Zhe Z; Wang, Sheng S; Zhang, Zhichao Z; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y
Publication Date: 2015-09

Variant appearance in text: SCN1A: 2678T>A; L893*
PubMed Link: 26096185
Variant Present in the following documents:
  • Main text
  • HUMU-36-861.pdf
View BVdb publication page