SCN5A c.3289G>T ;(p.V1097L)

Variant ID: 3-38620923-C-A

NM_000335.4(SCN5A):c.3289G>T;(p.V1097L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population.

Journal Of Cardiovascular Development And Disease
Wang, Lin-Lin LL; Chen, Yang-Hui YH; Sun, Yang Y; Huang, Man M; Wei, Hao-Ran HR; Liu, Hao H; Xu, Ke K; Song, Xiu-Li XL; Chen, Peng P; Tan, Lun L; Huang, Jin J; Li, Zong-Zhe ZZ; Li, Rui R; Yu, Ting T; Ma, Fei F; Ding, Hu H; Wang, Yan Y; Wang, Dao-Wen DW; Wang, Hong H; Zhao, Chun-Xia CX
Publication Date: 2022-10-28

Variant appearance in text: rs199473191
PubMed Link: 36354768
Variant Present in the following documents:
  • jcdd-09-00369.pdf
View BVdb publication page



Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry
Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF
Publication Date: 2022-09

Variant appearance in text: SCN5A: V1097L
PubMed Link: 35863433
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: rs199473191
PubMed Link: 29502107
Variant Present in the following documents:
  • JAH3-7-e007837-s001.pdf
  • JAH3-7-e007837.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: SCN5A: V1097L; rs199473191
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page



Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Mayo Clinic Proceedings
Zhang, Liyong L; Tester, David J DJ; Lang, Di D; Chen, Yili Y; Zheng, Jinxiang J; Gao, Rui R; Corliss, Robert F RF; Tang, Shuangbo S; Kyle, John W JW; Liu, Chao C; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Cheng, Jianding J
Publication Date: 2016-11

Variant appearance in text: rs199473191
PubMed Link: 27707468
Variant Present in the following documents:
  • Main text
View BVdb publication page