NM_000218.2:c.387-5T>A

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  2. NM_000218.2:c.387-5T>A

HGVS Expressions

  • NG_008935.1:g.87933T>A
  • NM_000218.2:c.387-5T>A

Associated Genes

Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 1
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Genomic Location

chr11:2527923

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

200872

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192500.1.1Saudi Arabia1PathogenicLong QT Syndrome 1Bhuiyan et al. 2009
192500.1.2Saudi Arabia1PathogenicLong QT Syndrome 1Bhuiyan et al. 2009 Father of 192500.1.1
192500.1.3Saudi Arabia1PathogenicLong QT Syndrome 1Bhuiyan et al. 2009 Mother of 192500.1.1
192500.2.1Saudi Arabia1PathogenicLong QT Syndrome 1Bhuiyan et al. 2009
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Contributors

  • Sayeeda Hana: 04.06.2020

Edit History

  • Sayeeda Hana: 04.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.