SCN1B c.448+193G>A

Variant ID: 19-35524836-G-A

NM_001037.4(SCN1B):c.448+193G>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: SCN1B: 448+193G>A; rs66876876
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Human Genomics
Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK
Publication Date: 2022-12-20

Variant appearance in text: SCN1B: 448+193G>A; rs66876876
PubMed Link: 36539902
Variant Present in the following documents:
  • 40246_2022_444_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: SCN1B: 448+193G>A
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg
Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS
Publication Date: 2019-09

Variant appearance in text: rs66876876
PubMed Link: 31043699
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs66876876
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation.

Plos One
Husser, Daniela D; Ueberham, Laura L; Hindricks, Gerhard G; Büttner, Petra P; Ingram, Christie C; Weeke, Peter P; Shoemaker, M Benjamin MB; Adams, Volker V; Arya, Arash A; Sommer, Philipp P; Darbar, Dawood D; Roden, Dan M DM; Bollmann, Andreas A
Publication Date: 2017

Variant appearance in text: SCN1B: 448+193G>A
PubMed Link: 28837624
Variant Present in the following documents:
  • Main text
  • pone.0183690.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: SCN1B: 448+193G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: SCN1B: 448+193G>A; rs66876876
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs66876876
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Scientific Reports
Ricci, Maria Teresa MT; Menegon, Silvia S; Vatrano, Simona S; Mandrile, Giorgia G; Cerrato, Natascia N; Carvalho, Paula P; De Marchi, Mario M; Gaita, Fiorenzo F; Giustetto, Carla C; Giachino, Daniela Francesca DF
Publication Date: 2014-09-25

Variant appearance in text: rs66876876
PubMed Link: 25253298
Variant Present in the following documents:
  • Main text
  • srep06470.pdf
View BVdb publication page



Brugada syndrome risk loci seem protective against atrial fibrillation.

European Journal Of Human Genetics : Ejhg
Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS
Publication Date: 2014-12

Variant appearance in text: rs66876876
PubMed Link: 24667784
Variant Present in the following documents:
  • Main text
View BVdb publication page