NM_000187.3:c.566G>T

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  2. NM_000187.3:c.566G>T

HGVS Expressions

  • NG_011957.1:g.41132G>T
  • NM_000187.3:c.566G>T
  • NP_000178.2:p.Ser189Ile
  • NC_000003.12:g.120646350C>A

Associated Genes

Homogentisate 1,2-Dioxygenase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203500.2.1Algeria2PathogenicAlkaptonuriaLadjouze-Rezig et al. 2006 Sister of 203500.2.2. Has affected child...
203500.2.2Algeria2PathogenicAlkaptonuriaLadjouze-Rezig et al. 2006 Sister of 203500.2.1
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Contributors

  • Pratibha Nair: 14.01.2019

Edit History

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