SCN1A c.4040T>C ;(p.I1347T)

Variant ID: 2-166859226-A-G

NM_001165963.1(SCN1A):c.4040T>C;(p.I1347T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Molecular Genetics & Genomic Medicine
de Kovel, Carolien G F CG; Brilstra, Eva H EH; van Kempen, Marjan J A MJ; Van't Slot, Ruben R; Nijman, Isaac J IJ; Afawi, Zaid Z; De Jonghe, Peter P; Djémié, Tania T; Guerrini, Renzo R; Hardies, Katia K; Helbig, Ingo I; Hendrickx, Rik R; Kanaan, Moine M; Kramer, Uri U; Lehesjoki, Anna-Elina E AE; Lemke, Johannes R JR; Marini, Carla C; Mei, Davide D; Møller, Rikke S RS; Pendziwiat, Manuela M; Stamberger, Hannah H; Suls, Arvid A; Weckhuysen, Sarah S; , ; Koeleman, Bobby P C BP
Publication Date: 2016-09

Variant appearance in text: SCN1A: I1347T
PubMed Link: 27652284
Variant Present in the following documents:
  • Main text
  • MGG3-4-568-s002.xlsx, sheet 1
  • MGG3-4-568.pdf
View BVdb publication page