KCNH2 c.1858A>G ;(p.S620G)

Variant ID: 7-150648623-T-C

NM_000238.3(KCNH2):c.1858A>G;(p.S620G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: S620G
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KCNH2: S620G
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.

Scientific Reports
Steffensen, Annette Buur AB; Refaat, Marwan M MM; David, Jens-Peter JP; Mujezinovic, Amer A; Calloe, Kirstine K; Wojciak, Julianne J; Nussbaum, Robert L RL; Scheinman, Melvin M MM; Schmitt, Nicole N
Publication Date: 2015-06-12

Variant appearance in text: LQT2: 1858A>G
PubMed Link: 26066609
Variant Present in the following documents:
  • Main text
  • srep10009.pdf
View BVdb publication page