SCN1A c.4900del ;(p.L1634Cfs*4)

Variant ID: 2-166848884-AG-A

NM_001165963.1(SCN1A):c.4900del;(p.L1634Cfs*4)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Progressive Worsening of Gait and Motor Abnormalities in Older Adults With Dravet Syndrome.

Neurology
Selvarajah, Arunan A; Gorodetsky, Carolina C; Marques, Paula P; Zulfiqar Ali, Quratulain Q; Berg, Anne T AT; Fasano, Alfonso A; Andrade, Danielle M DM
Publication Date: 2022-05-31

Variant appearance in text: SCN1A: 4900delC
PubMed Link: 35418450
Variant Present in the following documents:
  • WNL-2022-200538.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SCN1A: 4900delC
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page