SCN1A c.3376A>G ;(p.N1126D)

Variant ID: 2-166892611-T-C

NM_001165963.1(SCN1A):c.3376A>G;(p.N1126D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience
Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M
Publication Date: 2019

Variant appearance in text: SCN1A: 3376A>G; N1126D; rs1226308717
PubMed Link: 31780880
Variant Present in the following documents:
  • Main text
  • fnins-13-01135.pdf
View BVdb publication page