NM_000218.3:c.1484_1485CT[1]

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HGVS Expressions

  • NG_008935.1:g.222061_222062CT[1]
  • NM_000218.3:c.1484_1485CT[1]
  • NP_861463.1:p.Leu369fs
  • NC_000011.10:g.2662051_2662052CT[1]

Associated Genes

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

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Deletion

dbSNP

397508090

Clinvar

52983

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.4.1Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family C' in the publicati...
220400.4.2Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Father of 220400.4.1, minor QTc prolonga...
220400.4.3Saudi Arabia1NAAl-Aama et al. 2015 Mother of 220400.4.1
220400.4.4Saudi Arabia1NAAl-Aama et al. 2015 Brother of 220400.4.1
220400.4.5Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Sister of 220400.4.1, minor QTc prolonga...
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Contributors

    Edit History

    • Pratibha Nair: 22.11.2022
    • Asha Deepthi: 14.03.2021
    • Sayeeda Hana: 26.09.2020
    • Asha Deepthi: 31.01.2019
    • Asha Deepthi: 30.01.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.