NM_000218.3:c.1591C>T

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HGVS Expressions

  • NG_008935.1:g.335970C>T
  • NM_000218.3:c.1591C>T
  • NP_000209.2:p.Gln531Ter
  • NC_000011.10:g.2775960C>T

Associated Genes

Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

965523

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192500.4Lebanon1Likely PathogenicLong QT Syndrome 1Refaat et al. 2016 Patient has long-standing β-thalessemia ...
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Contributors

  • Asha Deepthi: 23.02.2021

Edit History

  • Asha Deepthi: 23.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.