SCN5A c.3745T>C ;(p.F1249L)

Variant ID: 3-38607992-A-G

NM_000335.4(SCN5A):c.3745T>C;(p.F1249L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology
Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A
Publication Date: 2018

Variant appearance in text: SCN5A: 3745T>C
PubMed Link: 30364184
Variant Present in the following documents:
  • Main text
  • fphys-09-01372.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs45589741
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs45589741
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page