KCNQ1 c.1780_1782delinsTGT ;(p.R594C)

Variant ID: 11-2799253-CGA-TGT

NM_000218.2(KCNQ1):c.1780_1782delinsTGT;(p.R594C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Journal Of Cardiovascular Electrophysiology
Horr, Samuel S; Goldenberg, Ilan I; Moss, Arthur J AJ; O-Uchi, Jin J; Barsheshet, Alon A; Connelly, Heather H; Gray, Daniel A DA; Zareba, Wojciech W; Lopes, Coeli M B CM
Publication Date: 2011-02

Variant appearance in text: KCNQ1: R594C
PubMed Link: 20662986
Variant Present in the following documents:
  • Main text
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