NM_000336.2:c.1402G>A

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HGVS Expressions

  • NG_011908.1:g.80115G>A
  • NM_000336.2:c.1402G>A
  • NP_000327.2:p.Glu468Lys
  • NC_000016.10:g.23377384G>A

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

372687977

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211400.2United Arab Emirates1Likely PathogenicBronchiectasis with or without Elevated Sweat Chloride 1Alsamri et al. 2021
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Contributors

  • Sami Bizzari: 14.06.2022

Edit History

  • Sami Bizzari: 18.07.2022
  • Sami Bizzari: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.