KCNH2 c.205_206delinsGC ;(p.L69A)

Variant ID: 7-150671900-AG-GC

NM_000238.3(KCNH2):c.205_206delinsGC;(p.L69A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.

Channels (Austin, Tex.)
Jenewein, Tina T; Kanner, Scott A SA; Bauer, Daniel D; Hertel, Brigitte B; Colecraft, Henry M HM; Moroni, Anna A; Thiel, Gerhard G; Kauferstein, Silke S
Publication Date: 2020-12

Variant appearance in text: KCNH2: L69A
PubMed Link: 32253972
Variant Present in the following documents:
  • Main text
  • kchl-14-01-1751522.pdf
View BVdb publication page