NM_000218.2:c.820_830del

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HGVS Expressions

  • NG_008935.1:g.132895_132905del
  • NM_000218.2:c.820_830del
  • NP_000209.2:p.Ile274Valfs*7
  • NC_000011.10:g.2572885_2572895

Associated Genes

Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.1.1Saudi Arabia1NAUncertain SignificanceJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2014; Al-Aama et al. 2015 Proband [also included in Al-Aama JY et ...
220400.1.2Saudi Arabia1NAAl-Aama et al. 2014 Mother of 220400.1.1
220400.1.3Saudi Arabia1NAAl-Aama et al. 2014 Brother of 220400.1.1
220400.1.4Saudi Arabia1NAAl-Aama et al. 2014 Sister of 220400.1.1
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Contributors

    Edit History

    • Asha Deepthi: 14.03.2021
    • Asha Deepthi: 31.01.2019
    • Asha Deepthi: 30.01.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.