NM_000497.3:c.1210dup

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  2. NM_000497.3:c.1210dup

HGVS Expressions

  • NG_007954.1:g.9676dup
  • NM_000497.3:c.1210dup
  • NP_000488.3:p.Arg404ProfsTer18
  • NC_000008.11:g.142875145dup

Associated Genes

Cytochrome P450, Subfamily XIB, Polypeptide 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
202010.1.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase DeficiencySoardi et al, 2009 Proband
202010.1.2Lebanon1PathogenicSoardi et al, 2009 Unaffected mother of the proband 202010....
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Contributors

  • Sayeeda Hana: 21.06.2019

Edit History

  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 21.06.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.