KCNQ1 c.647G>A ;(p.G216D)

Variant ID: 11-2592597-G-A

NM_000218.2(KCNQ1):c.647G>A;(p.G216D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: KCNQ1: 647G>A; G216D
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Plos One
Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E
Publication Date: 2019

Variant appearance in text: KCNQ1: 647G>A
PubMed Link: 30615648
Variant Present in the following documents:
  • pone.0210017.s002.xlsx, sheet 1
View BVdb publication page



High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg
Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS
Publication Date: 2012-08

Variant appearance in text: LQT1: 647G>A
PubMed Link: 22378279
Variant Present in the following documents:
  • Main text
View BVdb publication page