SCN1A c.3985C>T ;(p.R1329*)

Variant ID: 2-166866246-G-A

NM_001165963.1(SCN1A):c.3985C>T;(p.R1329*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Epilepsy & Behavior Reports
Akbar, Fizza F; Saleh, Raisa R; Kirmani, Salman S; Chand, Prem P; Mukhtiar, Khairunnisa K; Jan, Farida F; Kumar, Raman R; Ibrahim, Shahnaz S
Publication Date: 2022

Variant appearance in text: SCN1A: 3985C>T; Arg1329*
PubMed Link: 36471706
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 3985C>T
PubMed Link: 35418450
Variant Present in the following documents:
  • WNL-2022-200538.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SCN1A: 3985C>T; R1329*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: SCN1A: 3985C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Frontiers In Neurology
Demos, Michelle M; Guella, Ilaria I; DeGuzman, Conrado C; McKenzie, Marna B MB; Buerki, Sarah E SE; Evans, Daniel M DM; Toyota, Eric B EB; Boelman, Cyrus C; Huh, Linda L LL; Datta, Anita A; Michoulas, Aspasia A; Selby, Kathryn K; Bjornson, Bruce H BH; Horvath, Gabriella G; Lopez-Rangel, Elena E; van Karnebeek, Clara D M CDM; Salvarinova, Ramona R; Slade, Erin E; Eydoux, Patrice P; Adam, Shelin S; Van Allen, Margot I MI; Nelson, Tanya N TN; Bolbocean, Corneliu C; Connolly, Mary B MB; Farrer, Matthew J MJ
Publication Date: 2019

Variant appearance in text: SCN1A: 3985C>T; R1329X
PubMed Link: 31164858
Variant Present in the following documents:
  • Main text
  • fneur-10-00434.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 3985C>T; Arg1329Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 3985C>T; R1329*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page