SCN1A c.1457C>G ;(p.A486G)

Variant ID: 2-166901758-G-C

NM_001165963.1(SCN1A):c.1457C>G;(p.A486G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Pharmacogenomics And Personalized Medicine
Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P
Publication Date: 2021

Variant appearance in text: SCN1A: 1457C>G
PubMed Link: 33688237
Variant Present in the following documents:
  • Main text
  • pgpm-14-287.pdf
View BVdb publication page



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: 1457C>G; A486G; rs777120925
PubMed Link: 31780880
Variant Present in the following documents:
  • Main text
View BVdb publication page



How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology
Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS
Publication Date: 2019-11-26

Variant appearance in text: SCN1A: 1457C>G; Ala486Gly; rs777120925
PubMed Link: 31719132
Variant Present in the following documents:
  • NEUROLOGY2019966051.pdf
View BVdb publication page