SCN5A c.3068G>C ;(p.R1023P)

Variant ID: 3-38622582-C-G

NM_000335.4(SCN5A):c.3068G>C;(p.R1023P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Journal Of Clinical Medicine
Oliva, Antonio A; Grassi, Simone S; Pinchi, Vilma V; Cazzato, Francesca F; Coll, Mónica M; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Cesar, Sergi S; Iglesias, Anna A; Cruzalegui, José J; Hernández, Clara C; Fiol, Victoria V; Arbelo, Elena E; Díez-Escuté, Nuria N; Arena, Vincenzo V; Brugada, Josep J; Sarquella-Brugada, Georgia G; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2022-07-28

Variant appearance in text: rs199473592
PubMed Link: 35956023
Variant Present in the following documents:
  • jcm-11-04406.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 3068G>C; Arg1023Pro
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: SCN5A: 3068G>C; R1023T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Frontiers In Genetics
Chen, Ching-Yu Julius CJ; Lu, Tzu-Pin TP; Lin, Lian-Yu LY; Liu, Yen-Bin YB; Ho, Li-Ting LT; Huang, Hui-Chun HC; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Yeh, Shih-Fan Sherri SS; Wu, Cho-Kai CK; Juang, Jyh-Ming Jimmy JJ; Antzelevitch, Charles C
Publication Date: 2018

Variant appearance in text: rs199473592
PubMed Link: 30662450
Variant Present in the following documents:
  • Main text
  • fgene-09-00680.pdf
View BVdb publication page



Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science
Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH
Publication Date: 2018-08-06

Variant appearance in text: SCN5A: R1023P
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
View BVdb publication page