NM_000218.2:c.1251+1G>T

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HGVS Expressions

  • NG_008935.1:g.147703G>T
  • NM_000218.2:c.1251+1G>T
  • NC_000011.10:g.2587693G>T

Associated Genes

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

Uncertain Significance

Variant Type

Substitution

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 ...
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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.