NM_000486.6:c.377C>T

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HGVS Expressions

  • NG_008913.1:g.8431C>T
  • NM_000486.6:c.377C>T
  • NP_000477.1:p.Thr126Met
  • NC_000012.12:g.49954171C>T

Associated Genes

Aquaporin 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894330

Clinvar

17833

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125800.1.1United Arab Emirates2PathogenicDiabetes Insipidus, Nephrogenic, AutosomalRugpolmuang et al. 2014 The patient also had two paternal uncles...
125800.1.2United Arab Emirates2PathogenicDiabetes Insipidus, Nephrogenic, AutosomalRugpolmuang et al. 2014 Father of 125800.1.1
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Contributors

  • Sayeeda Hana: 06.07.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 06.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.