SCN1A c.730G>A ;(p.V244M)

Variant ID: 2-166908463-C-T

NM_001165963.1(SCN1A):c.730G>A;(p.V244M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.

Journal Of Pain Research
Loke, Mun-Fai MF; Wei, Heming H; Yeo, Junjie J; Sng, Ban-Leong BL; Sia, Alex T AT; Tan, Ene-Choo EC
Publication Date: 2019

Variant appearance in text: SCN1A: 730G>A; Val244Ile
PubMed Link: 31571979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Plos One
Lal, Dennis D; Reinthaler, Eva M EM; Dejanovic, Borislav B; May, Patrick P; Thiele, Holger H; Lehesjoki, Anna-Elina AE; Schwarz, Günter G; Riesch, Erik E; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Steinböck, Hannelore H; Gruber-Sedlmayr, Ursula U; Neophytou, Birgit B; Zara, Federico F; Hahn, Andreas A; , ; , ; Gormley, Padhraig P; Becker, Felicitas F; Weber, Yvonne G YG; Cilio, Maria Roberta MR; Kunz, Wolfram S WS; Krause, Roland R; Zimprich, Fritz F; Lemke, Johannes R JR; Nürnberg, Peter P; Sander, Thomas T; Lerche, Holger H; Neubauer, Bernd A BA
Publication Date: 2016

Variant appearance in text: SCN1A: V244M
PubMed Link: 26990884
Variant Present in the following documents:
  • Main text
  • pone.0150426.pdf
View BVdb publication page