SCN5A c.2090G>A ;(p.W697*)

Variant ID: 3-38639392-C-T

NM_000335.4(SCN5A):c.2090G>A;(p.W697*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: SCN5A: W697X
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: SCN5A: W697X
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



The Mechanism of Ajmaline and Thus Brugada Syndrome: Not Only the Sodium Channel!

Frontiers In Cardiovascular Medicine
Monasky, Michelle M MM; Micaglio, Emanuele E; D'Imperio, Sara S; Pappone, Carlo C
Publication Date: 2021

Variant appearance in text: SCN5A: W697X
PubMed Link: 35004896
Variant Present in the following documents:
  • fcvm-08-782596.pdf
View BVdb publication page



Brugada Syndrome: Warning of a Systemic Condition?

Frontiers In Cardiovascular Medicine
D'Imperio, Sara S; Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Anastasia, Luigi L; Pappone, Carlo C
Publication Date: 2021

Variant appearance in text: SCN5A: W697X
PubMed Link: 34722688
Variant Present in the following documents:
  • fcvm-08-771349.pdf
View BVdb publication page



Brugada Syndrome: Oligogenic or Mendelian Disease?

International Journal Of Molecular Sciences
Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Pappone, Carlo C
Publication Date: 2020-03-01

Variant appearance in text: SCN5A: W697X
PubMed Link: 32121523
Variant Present in the following documents:
  • ijms-21-01687.pdf
View BVdb publication page