Variant: rs137854604 

    present in Gene: SCN5A
    present in Chromosome: 3
    Position on Chromosome: 38551243
    Alleles of this Variant: G/A

rs137854604 in SCN5A gene and Brugada Syndrome (disorder) PMID 14961552 2003 Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

PMID 19026623 2009 Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

PMID 10940383 2000 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

PMID 23139254 2012 Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 26798387 2016 Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 22247482 2012 A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

rs137854604 in SCN5A gene and Ventricular Fibrillation, Paroxysmal Familial, 1 PMID 10940383 2000 We performed genetic screenings of Japanese IVF patients and found a novel SCN5A missense mutation (S1710L) in one symptomatic IVF patient that did not exhibit the typical Brugada ECG.