SCN5A c.3835G>A ;(p.D1279N)

Variant ID: 3-38607902-C-T

NM_000335.4(SCN5A):c.3835G>A;(p.D1279N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.

Bmc Genomics
Wei, Si-Jie SJ; Du, Jin-Liang JL; Wang, Yue-Bing YB; Qu, Peng-Fei PF; Ma, Lin L; Sun, Zhong-Chun ZC; Tang, Xue X; Liu, Kai K; Xi, Yan-Mei YM; Nie, Sheng-Jie SJ; Jia, Peng-Lin PL; Long, Wu W; Qu, Yong-Qiang YQ; Li, Yu-Hua YH; Lei, Pu-Ping PP
Publication Date: 2023-01-31

Variant appearance in text: SCN5A: 3835G>A; Val1279Ile
PubMed Link: 36721086
Variant Present in the following documents:
  • 12864_2022_9097_MOESM2_ESM.xls, sheet 2
  • 12864_2022_9097_MOESM4_ESM.pdf
View BVdb publication page



The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020

Variant appearance in text: SCN5A: 3835G>A; Val1279Ile
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SCN5A: 3835G>A; Val1279Ile
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page