KCNH2 c.2009C>T ;(p.T670I)

Variant ID: 7-150648145-G-A

NM_000238.3(KCNH2):c.2009C>T;(p.T670I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: 2009C>T
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences
Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R
Publication Date: 2021-11-28

Variant appearance in text: KCNH2: 2009C>T
PubMed Link: 34884666
Variant Present in the following documents:
  • Main text
  • ijms-22-12861.pdf
View BVdb publication page



Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences
Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R
Publication Date: 2021-11-28

Variant appearance in text: KCNH2: 2009C>T
PubMed Link: 34884666
Variant Present in the following documents:
  • Main text
  • ijms-22-12861.pdf
View BVdb publication page