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Article

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

European journal of human genetics : EJHG - 1 Aug 2012

Refsgaard Lena, Holst Anders G, Sadjadieh Golnaz, Haunsø Stig, Nielsen Jonas B, Olesen Morten S

Abstract excerpt

To date, hundreds of variants in 13 genes have been associated with long QT syndrome (LQTS). The prevalence of LQTS is estimated to be between 1:2000 and 1:5000. The knowledge of genetic variation in the general population has until recently been limited, but newly published data from NHLBI GO Exome Sequencing Project (ESP) has provided important knowledge on this topic. We aimed to investigate the prevalence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22378279
DOI: 10.1038/ejhg.2012.23
PMCID: PMC3400735

Genes

CAV3
KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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