SCN1A c.393C>G ;(p.S131R)

Variant ID: 2-166913001-G-C

NM_001165963.1(SCN1A):c.393C>G;(p.S131R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Bmc Medical Genetics
Fry, Andrew E AE; Rees, Elliott E; Thompson, Rose R; Mantripragada, Kiran K; Blake, Penny P; Jones, Glyn G; Morgan, Sian S; Jose, Sian S; Mugalaasi, Hood H; Archer, Hayley H; McCann, Emma E; Clarke, Angus A; Taylor, Clare C; Davies, Sally S; Gibbon, Frances F; Te Water Naude, Johann J; Hartley, Louise L; Thomas, Gareth G; White, Catharine C; Natarajan, Jaya J; Thomas, Rhys H RH; Drew, Cheney C; Chung, Seo-Kyung SK; Rees, Mark I MI; Holmans, Peter P; Owen, Michael J MJ; Kirov, George G; Pilz, Daniela T DT; Kerr, Michael P MP
Publication Date: 2016-04-26

Variant appearance in text: SCN1A: 393C>G
PubMed Link: 27113213
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_294.pdf
View BVdb publication page