SCN5A c.2788-1481T>C

Variant ID: 3-38624343-A-G

NM_000335.4(SCN5A):c.2788-1481T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3922843
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3922843
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A high-density association screen of 155 ion transport genes for involvement with common migraine.

Human Molecular Genetics
Nyholt, Dale R DR; LaForge, K Steven KS; Kallela, Mikko M; Alakurtti, Kirsi K; Anttila, Verneri V; Färkkilä, Markus M; Hämaläinen, Eija E; Kaprio, Jaakko J; Kaunisto, Mari A MA; Heath, Andrew C AC; Montgomery, Grant W GW; Göbel, Hartmut H; Todt, Unda U; Ferrari, Michel D MD; Launer, Lenore J LJ; Frants, Rune R RR; Terwindt, Gisela M GM; de Vries, Boukje B; Verschuren, W M Monique WM; Brand, Jan J; Freilinger, Tobias T; Pfaffenrath, Volker V; Straube, Andreas A; Ballinger, Dennis G DG; Zhan, Yiping Y; Daly, Mark J MJ; Cox, David R DR; Dichgans, Martin M; van den Maagdenberg, Arn M J M AM; Kubisch, Christian C; Martin, Nicholas G NG; Wessman, Maija M; Peltonen, Leena L; Palotie, Aarno A
Publication Date: 2008-11-01

Variant appearance in text: rs3922843
PubMed Link: 18676988
Variant Present in the following documents:
  • Main text
View BVdb publication page