NM_032470.3:c.*253G>A

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  2. NM_032470.3:c.*253G>A

HGVS Expressions

  • NG_045215.1:g.3325C>T
  • NM_032470.3:c.*253G>A
  • NP_001122062.3:p.Arg454Trp

Associated Genes

Cytochrome P450, Family 21, Subfamily A, Polypeptide 2
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Genomic Location

Chr6:32041096

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

759736443

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201910.10Tunisia2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004
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Contributors

  • Pratibha Nair: 11.10.2018

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 13.01.2019
  • Pratibha Nair: 10.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.