KCNQ1 c.527G>A ;(p.W176*)

Variant ID: 11-2591907-G-A

NM_000218.2(KCNQ1):c.527G>A;(p.W176*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Lin, Yubi Y; Zhao, Ting T; He, Siqi S; Huang, Jiana J; Liu, Qianru Q; Yang, Zhe Z; Qin, Jiading J; Yu, Nan N; Lu, Hongyun H; Lin, Xiufang X
Publication Date: 2020-01

Variant appearance in text: KCNQ1: W176X
PubMed Link: 31565860
Variant Present in the following documents:
  • Main text
  • ANEC-25-e12694.pdf
View BVdb publication page