SCN1A c.2719G>T ;(p.V907F)

Variant ID: 2-166894513-C-A

NM_001165963.1(SCN1A):c.2719G>T;(p.V907F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A targeted resequencing gene panel for focal epilepsy.

Neurology
Hildebrand, Michael S MS; Myers, Candace T CT; Carvill, Gemma L GL; Regan, Brigid M BM; Damiano, John A JA; Mullen, Saul A SA; Newton, Mark R MR; Nair, Umesh U; Gazina, Elena V EV; Milligan, Carol J CJ; Reid, Christopher A CA; Petrou, Steven S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Mefford, Heather C HC
Publication Date: 2016-04-26

Variant appearance in text: SCN1A: Val907Phe
PubMed Link: 27029629
Variant Present in the following documents:
  • Main text
View BVdb publication page