SCN5A c.2185_2187del ;(p.L729del)

Variant ID: 3-38639295-TGAG-T

NM_000335.4(SCN5A):c.2185_2187del;(p.L729del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

Circulation. Genomic And Precision Medicine
James, Cynthia A CA; Jongbloed, Jan D H JDH; Hershberger, Ray E RE; Morales, Ana A; Judge, Daniel P DP; Syrris, Petros P; Pilichou, Kalliopi K; Domingo, Argelia Medeiros AM; Murray, Brittney B; Cadrin-Tourigny, Julia J; Lekanne Deprez, Ronald R; Celeghin, Rudy R; Protonotarios, Alexandros A; Asatryan, Babken B; Brown, Emily E; Jordan, Elizabeth E; McGlaughon, Jennifer J; Thaxton, Courtney C; Kurtz, C Lisa CL; van Tintelen, J Peter JP
Publication Date: 2021-06

Variant appearance in text: SCN5A: Leu729del
PubMed Link: 33831308
Variant Present in the following documents:
  • hcg-14-e003273-s001.pdf
View BVdb publication page



Late evolution of arrhythmogenic cardiomyopathy in patients with initial presentation as idiopathic ventricular fibrillation.

Heartrhythm Case Reports
Blom, Lennart J LJ; Te Riele, Anneline S J M ASJM; Vink, Aryan A; Hauer, Richard N W RNW; Hassink, Rutger J RJ
Publication Date: 2019-01

Variant appearance in text: SCN5A: Leu729del
PubMed Link: 30693201
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Life-long tailoring of diagnosis and management of patients with idiopathic ventricular fibrillation-future perspectives in research.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Blom, L J LJ; Volders, P G A PGA; Wilde, A A AA; Hassink, R J RJ
Publication Date: 2018-08

Variant appearance in text: SCN5A: Leu729del
PubMed Link: 29882040
Variant Present in the following documents:
  • Main text
  • 12471_2018_Article_1123.pdf
View BVdb publication page