NM_000238.4:c.2362G>A

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  2. NM_000238.4:c.2362G>A

HGVS Expressions

  • NG_008916.1:g.32723G>A
  • NM_000238.4:c.2362G>A
  • NP_000229.1:p.Glu788Lys

Associated Genes

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

chr7:150950204

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

199472997

Clinvar

67389

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613688.2.1Saudi Arabia2PathogenicLong QT Syndrome 2Bhuiyan et al. 2009
613688.2.2Saudi Arabia1Bhuiyan et al. 2009 Daughter of 613688.2.1
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Contributors

  • Sayeeda Hana: 27.10.2020

Edit History

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