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Article

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Genome research - 25 Aug 2022

Zheng Honglan, Yan Xinhao, Li Guanluan, Lin Hengwei, Deng Siqi, Zhuang Wenhui, Yao Fuqiang, Lu Yu, Xia Xin, Yuan Huijun, Jin Li, Yan Zhiqiang

Abstract excerpt

Clinical exome sequencing has yielded extensive disease-related missense single-nucleotide variants (SNVs) of uncertain significance, leading to diagnostic uncertainty. KCNQ4 is one of the most commonly responsible genes for autosomal dominant nonsyndromic hearing loss. According to the gnomAD cohort, approximately one in 100 people harbors missense variants in KCNQ4 (missense variants with minor allele frequency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 35760561
DOI: 10.1101/gr.276562.122
PMCID: PMC9435748

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