KCNQ1 c.328G>C ;(p.V110L)

Variant ID: 11-2466656-G-C

NM_000218.2(KCNQ1):c.328G>C;(p.V110L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Publication Date: 2018-03

Variant appearance in text: KCNQ1: V110l
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
View BVdb publication page