NM_000085.5:c.490G>T

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HGVS Expressions

  • NG_013079.1:g.9285G>T
  • NM_000085.5:c.490G>T
  • NP_000076.2:p.Gly164Trp
  • NC_000001.11:g.16048036G>T

Associated Genes

Chloride Channel, Kidney, B
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607364.1.1United Arab Emirates2Likely PathogenicBartter Syndrome, Type 3; Gitelman SyndromeAl-Shibli et al. 2014 Patients from this Emirati family were c...
607364.1.2United Arab Emirates2Likely PathogenicBartter Syndrome, Type 3; Gitelman SyndromeAl-Shibli et al. 2014 Brother of 607364.1.1. Patients from thi...
607364.1.3United Arab Emirates2Likely PathogenicBartter Syndrome, Type 3; Gitelman SyndromeAl-Shibli et al. 2014 Cousin of 607364.1.1. Patients from this...
607364.1.4United Arab Emirates2Likely PathogenicBartter Syndrome, Type 3; Gitelman SyndromeAl-Shibli et al. 2014 Cousin of 607364.1.1. Patients from this...
607364.1.5United Arab Emirates1Al-Shibli et al. 2014 Father of 607364.1.1
607364.1.6United Arab Emirates1Al-Shibli et al. 2014 Mother of 607364.1.1
607364.1.7United Arab Emirates1Al-Shibli et al. 2014 Father of 607364.1.3
607364.1.8United Arab Emirates1Al-Shibli et al. 2014 Mother of 607364.1.3
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Contributors

  • Sayeeda Hana: 14.09.2021

Edit History

  • Pratibha Nair: 03.01.2023
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.