KCNH2 c.1588C>T ;(p.L530=)

Variant ID: 7-150648893-G-A

NM_000238.3(KCNH2):c.1588C>T;(p.L530=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16

Variant appearance in text: LQT2: 1588C>T
PubMed Link: 26675252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: KCNH2: 1588C>T
PubMed Link: 23098067
Variant Present in the following documents:
  • 1471-2261-12-95.pdf
View BVdb publication page