SCN1A c.265-3095C>A

Variant ID: 2-166918293-G-T

NM_001165963.1(SCN1A):c.265-3095C>A

This variant was identified in 6 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: rs1381109
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Consequences of exposure to pollutants on respiratory health: From genetic correlations to causal relationships.

Plos One
D'Antona, Salvatore S; Castiglioni, Isabella I; Porro, Danilo D; Cava, Claudia C
Publication Date: 2022

Variant appearance in text: rs1381109
PubMed Link: 36395113
Variant Present in the following documents:
  • pone.0277235.pdf
View BVdb publication page



Leveraging the Electronic Health Record to Address the COVID-19 Pandemic.

Mayo Clinic Proceedings
Satterfield, Benjamin A BA; Dikilitas, Ozan O; Kullo, Iftikhar J IJ
Publication Date: 2021-06

Variant appearance in text: rs1381109
PubMed Link: 34088418
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Implementing Personalized Medicine in COVID-19 in Andalusia: An Opportunity to Transform the Healthcare System.

Journal Of Personalized Medicine
Dopazo, Joaquín J; Maya-Miles, Douglas D; García, Federico F; Lorusso, Nicola N; Calleja, Miguel Ángel MÁ; Pareja, María Jesús MJ; López-Miranda, José J; Rodríguez-Baño, Jesús J; Padillo, Javier J; Túnez, Isaac I; Romero-Gómez, Manuel M
Publication Date: 2021-05-26

Variant appearance in text: rs1381109
PubMed Link: 34073493
Variant Present in the following documents:
  • Main text
  • jpm-11-00475.pdf
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: rs1381109
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping.

American Journal Of Human Genetics
Weale, Mike E ME; Depondt, Chantal C; Macdonald, Stuart J SJ; Smith, Alice A; Lai, Poh San PS; Shorvon, Simon D SD; Wood, Nicholas W NW; Goldstein, David B DB
Publication Date: 2003-09

Variant appearance in text: rs1381109
PubMed Link: 12900796
Variant Present in the following documents:
  • Main text
View BVdb publication page