Variant ID: 3-38592986-C-T

NM_198056.2(SCN5A):c.4877G>A;(p.Arg1626His)

This variant was identified in 7 publications




Publications:


Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)
T Nakajima, Y Kaneko, T Dharmawan, M Kurabayashi
Publication Date: 2019-12

Variant appearance in text: SCN5A: R1626H
PubMed Link: 31357904
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

American Journal Of Human Genetics
N Whiffin, AM Roberts, E Minikel, Z Zappala, R Walsh, AH O'Donnell-Luria, KJ Karczewski, SM Harrison, KL Thomson, H Sage, AY Ing, PJR Barton, B Funke, SA Cook, DG MacArthur, JS Ware
Publication Date: 2019-01-03

Variant appearance in text: SCN5A: 4877G>A; R1626H
PubMed Link: 30609406
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx
View BVdb publication page



Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American Journal Of Human Genetics
N Shah, YC Hou, HC Yu, R Sainger, CT Caskey, JC Venter, A Telenti
Publication Date: 2018-04-05

Variant appearance in text: rs199473283
PubMed Link: 29625023
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: rs199473283
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review
S Mahida
Publication Date: 2014-08

Variant appearance in text: SCN5A: R1626H
PubMed Link: 26835069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
MS Olesen, MW Nielsen, S Haunsø, JH Svendsen
Publication Date: 2014-03

Variant appearance in text: SCN5A: 4877G>A; Arg1626His
PubMed Link: 23838598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Heart Rhythm
JD Kapplinger, DJ Tester, BA Salisbury, JL Carr, C Harris-Kerr, GD Pollevick, AA Wilde, MJ Ackerman
Publication Date: 2009-09

Variant appearance in text: SCN5A: R1626H
PubMed Link: 19716085
Variant Present in the following documents:
  • NIHMS267562-supplement-Supplemental_Data.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000333535.4 c.4877G>A p.Arg1626His missense_variant 28/28 -
ENST00000413689.1 c.4877G>A p.Arg1626His missense_variant 28/28 -
ENST00000414099.2 c.4823G>A p.Arg1608His missense_variant 26/26 -
ENST00000423572.2 c.4874G>A p.Arg1625His missense_variant 27/27 -
ENST00000425664.1 c.4823G>A p.Arg1608His missense_variant 27/27 -
ENST00000443581.1 c.4874G>A p.Arg1625His missense_variant 28/28 -
ENST00000449557.2 c.4715G>A p.Arg1572His missense_variant 26/26 -
ENST00000450102.2 c.4715G>A p.Arg1572His missense_variant 26/26 -
ENST00000451551.2 c.4715G>A p.Arg1572His missense_variant 27/27 -
ENST00000455624.2 c.4778G>A p.Arg1593His missense_variant 27/27 -
NM_000335.4 c.4874G>A p.Arg1625His missense_variant 28/28 -
NM_001099404.1 c.4877G>A p.Arg1626His missense_variant 28/28 -
NM_001099405.1 c.4823G>A p.Arg1608His missense_variant 27/27 -
NM_001160160.2 c.4778G>A p.Arg1593His missense_variant 28/28 -
NM_001160161.1 c.4715G>A p.Arg1572His missense_variant 27/27 -
NM_001354701.2 c.4820G>A p.Arg1607His missense_variant 27/27 -
NM_198056.2 c.4877G>A p.Arg1626His missense_variant 28/28 -