NM_000187.3:c.175del

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HGVS Expressions

  • NG_011957.1:g.12580del
  • NM_000187.3:c.175del
  • NP_000178.2:p.Ser59AlafsTer52
  • NC_000003.12:g.120674903del

Associated Genes

Homogentisate 1,2-Dioxygenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

397515517

Clinvar

3171

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203500.5United Arab Emirates2PathogenicAlkaptonuriaAl-Shamsi et al. 2014; Ali et al. 2011
203500.6.1United Arab Emirates2PathogenicAlkaptonuriaAbdulrazzaq et al. 2009 Has two affected siblings; parents and t...
203500.6.2United Arab Emirates2PathogenicAlkaptonuriaAbdulrazzaq et al. 2009 Brother of 203500.6.1
203500.6.3United Arab Emirates2PathogenicAlkaptonuriaAbdulrazzaq et al. 2009 Sister of 203500.6.1
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Contributors

  • Pratibha Nair: 14.01.2019

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 01.06.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 14.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.