NM_000336.2:c.616C>T

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HGVS Expressions

  • NG_011908.1:g.58060C>T
  • NM_000336.2:c.616C>T
  • NP_000327.2:p.Arg206Trp
  • NC_000016.10:g.23355329C>T

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

756809433

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211400.1United Arab Emirates2Likely PathogenicBronchiectasis with or without Elevated Sweat Chloride 1Alsamri et al. 2020; Alsamri et al. 2021 Paternal uncles with chronic lung diseas...
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.