SCN5A c.2436+249T>C

Variant ID: 3-38628642-A-G

NM_000335.4(SCN5A):c.2436+249T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: SCN5A: 2436+249T>C; rs11711097
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs11711097
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy.

Journal Of Cardiovascular Development And Disease
Serie, Daniel J DJ; Crook, Julia E JE; Necela, Brian M BM; Axenfeld, Bianca C BC; Dockter, Travis J TJ; Colon-Otero, Gerardo G; Perez, Edith A EA; Thompson, E Aubrey EA; Norton, Nadine N
Publication Date: 2017-05-04

Variant appearance in text: rs11711097
PubMed Link: 29367538
Variant Present in the following documents:
  • Main text
  • jcdd-04-00006.pdf
View BVdb publication page