SCN5A c.611C>A ;(p.A204E)

Variant ID: 3-38662334-G-T

NM_000335.4(SCN5A):c.611C>A;(p.A204E)

This variant was identified in 5 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Corrigendum: Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia.

Frontiers In Cardiovascular Medicine
Huang, Wen W; Xu, Rui R; Gao, Ning N; Wu, Xia X; Wen, Cong C
Publication Date: 2022

Variant appearance in text: SCN5A: 611C>A; A204E
PubMed Link: 35783842
Variant Present in the following documents:
  • fcvm-09-944834.pdf
View BVdb publication page


A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions.

Heartrhythm Case Reports
Gao, Xiaozhi X; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ; Giudicessi, John R JR
Publication Date: 2022-01

Variant appearance in text: SCN5A: Ala204Glu
PubMed Link: 35070709
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 611C>A; A204E
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports
Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I
Publication Date: 2018-01-31

Variant appearance in text: SCN5A: 611C>A; A204E
PubMed Link: 29386531
Variant Present in the following documents:
  • 41598_2018_20114_MOESM1_ESM.pdf
View BVdb publication page