KCNQ1 c.1383T>G ;(p.Y461*)

Variant ID: 11-2610074-T-G

NM_000218.2(KCNQ1):c.1383T>G;(p.Y461*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia
Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M
Publication Date: 2016-10

Variant appearance in text: KCNQ1: Y461X
PubMed Link: 27761162
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Frontiers In Cellular Neuroscience
Mousavi Nik, Atefeh A; Gharaie, Somayeh S; Jeong Kim, Hyo H
Publication Date: 2015

Variant appearance in text: Kv7.1: Y461X
PubMed Link: 25705178
Variant Present in the following documents:
  • Main text
  • fncel-09-00032.pdf
View BVdb publication page