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Article

Exploiting ion channel structure to assess rare variant pathogenicity.

Heart rhythm - 1 Jun 2018

Kroncke Brett M, Yang Tao, Kannankeril Prince, Shoemaker M Benjamin, Roden Dan M

Abstract excerpt

BACKGROUND: A 27-year-old woman was seen for long QT syndrome. She was found to be a carrier of 2 variants, KCNQ1 Val162Met and KCNH2 Ser55Leu, and both were classified as "pathogenic" by a diagnostic laboratory, in part because of sequence proximity to other known pathogenic variants. OBJECTIVE: The purpose of this study was to assess the relationship between both the KCNQ1 and KCNH2 variants and clinical...

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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: 29330128
DOI: 10.1016/j.hrthm.2018.01.021
PMCID: PMC5984725

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesisSemantic proximity Read ↗

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