NM_000238.4:c.3208C>T

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HGVS Expressions

  • NG_008916.1:g.35928C>T
  • NM_000238.4:c.3208C>T
  • NP_000229.1:p.Gln1070Ter

Associated Genes

Potassium Channel, Voltage-Gated, Subfamily H, Member 2
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Genomic Location

chr7:150946999

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613688.4.1Saudi Arabia2PathogenicLong QT Syndrome 2Bhuiyan et al. 2009 Proband. HIs mother had 2 miscarriages a...
613688.4.2Saudi Arabia2PathogenicLong QT Syndrome 2Bhuiyan et al. 2009 Sister of 613688.4.1
613688.4.3Saudi Arabia1Bhuiyan et al. 2009 Father of 613688.4.1
613688.4.4Saudi Arabia1Bhuiyan et al. 2009 Mother of 613688.4.1
613688.5.1Saudi Arabia2PathogenicLong QT Syndrome 2Bhuiyan et al. 2009
613688.5.2Saudi Arabia1Bhuiyan et al. 2009 Father of 613688.5.1
613688.5.3Saudi Arabia1Bhuiyan et al. 2009 Mother of 613688.5.1
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Contributors

  • Sayeeda Hana: 27.10.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 02.11.2020
  • Sayeeda Hana: 27.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.