NM_000238.3:c.1837A>G

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  2. NM_000238.3:c.1837A>G

HGVS Expressions

  • NG_008916.1:g.31371A>G
  • NM_000238.3:c.1837A>G
  • NP_000229.1:p.Thr613Ala

Associated Genes

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

chr7:150951556

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

794728485

Clinvar

200743

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613688.1.1Lebanon1PathogenicLong QT Syndrome 2Poulsen et al. 2015
613688.1.2Lebanon1PathogenicLong QT Syndrome 2Poulsen et al. 2015 Sibling of 613688.1.1
613688.1.3Lebanon1PathogenicLong QT Syndrome 2Poulsen et al. 2015 Father of 613688.1.1
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Contributors

  • Pratibha Nair: 06.05.2020

Edit History

  • Sayeeda Hana: 27.10.2020
  • Pratibha Nair: 06.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.