NM_000238.4:c.1609C>T

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  2. NM_000238.4:c.1609C>T

HGVS Expressions

  • NG_008916.1:g.31143C>T
  • NM_000238.4:c.1609C>T
  • NP_000229.1:p.Arg537Trp

Associated Genes

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

chr7:150951784

Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

199472917

Clinvar

67222

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613688.3.1Saudi Arabia1PathogenicLong QT Syndrome 2Bhuiyan et al. 2009
613688.3.3Saudi Arabia1Bhuiyan et al. 2009 Mother of 613688.3.1
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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.