NM_000218.2:c.604G>A

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HGVS Expressions

  • NG_008935.1:g.130764G>A
  • NM_000218.2:c.604G>A
  • NP_000209.2:p.Asp202Asn
  • NC_000011.10:g.2570754G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

199472702

Clinvar

53077

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.3.1Saudi Arabia2NAUncertain SignificanceJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family B' in the publicati...
220400.3.2Saudi Arabia1NAAl-Aama et al. 2015 Son of 220400.3.1
220400.3.3Saudi Arabia1NAAl-Aama et al. 2015 Daughter of 220400.3.1
220400.3.4Saudi Arabia1NAAl-Aama et al. 2015 Daughter of 220400.3.1
220400.3.5Saudi Arabia1NAAl-Aama et al. 2015 Son of 220400.3.1
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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.