NM_001128590.3:c.92C>T

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HGVS Expressions

  • NG_055451.1:g.5190C>T
  • NM_001128590.3:c.92C>T
  • NP_001122062.3:p.Pro31Leu
  • NC_000006.12:g.32038514C>T

Associated Genes

Cytochrome P450, Family 21, Subfamily A, Polypeptide 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

9378251

Clinvar

12153

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201910.5Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
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Contributors

  • Pratibha Nair: 11.10.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 13.01.2019
  • Pratibha Nair: 10.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.