NM_004519.4:c.1994C>T

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HGVS Expressions

  • NG_008854.2:g.355871C>T
  • NM_004519.4:c.1994C>T
  • NP_004510.1:p.Ser665Leu
  • NC_000008.11:g.132129887G>A

Associated Genes

Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 3
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

147173555

Clinvar

194513

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.11.1United Arab Emirates6BenignMahfood et al. 2021 3 siblings (2 male, 1 female) with a mol...
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Contributors

  • Sami Bizzari: 21.02.2022

Edit History

  • Sami Bizzari: 22.02.2022
  • Sami Bizzari: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.