NM_000336.3:c.1542+1G>A

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HGVS Expressions

  • NG_011908.1:g.82901G>A
  • NM_000336.3:c.1542+1G>A

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit
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Genomic Location

chr16:23380170

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

870735

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264350.1Lebanon2Likely PathogenicPseudohypoaldosteronism, Type I, Autosomal RecessiveJalkh et al. 2019
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Contributors

  • Pratibha Nair: 24.11.2020

Edit History

  • Sami Bizzari: 26.05.2021
  • Pratibha Nair: 24.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.