SCN1A c.2357C>T ;(p.A786V)

Variant ID: 2-166897799-G-A

NM_001165963.1(SCN1A):c.2357C>T;(p.A786V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Journal Of The American Heart Association
Chahal, C Anwar A CAA; Tester, David J DJ; Fayyaz, Ahmed U AU; Jaliparthy, Keerthi K; Khan, Nadeem A NA; Lu, Dongmei D; Khan, Mariha M; Sahoo, Aradhana A; Rajendran, Aiswarya A; Knight, Jennifer A JA; Simpson, Michael A MA; Behr, Elijah R ER; So, Elson L EL; St Louis, Erik K EK; Reichard, R Ross RR; Edwards, William D WD; Ackerman, Michael J MJ; Somers, Virend K VK
Publication Date: 2021-12-07

Variant appearance in text: SCN1A: A786V
PubMed Link: 34816733
Variant Present in the following documents:
  • Main text
  • JAH3-10-e021170.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: SCN1A: 2357C>T
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page