NM_024592.4:c.286_288delinsTGAGTAAGGC

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HGVS Expressions

  • NG_028230.1:g.18190_18192delinsTGAGTAAGGC
  • NM_024592.4:c.286_288delinsTGAGTAAGGC
  • NP_078868.1:p.Gln96Ter
  • NC_000004.12:g.55359410_55359412delinsTGAGTAAGGC

Associated Genes

Steroid 5-Alpha-Reductase 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Indel

dbSNP

587776521

Clinvar

18404

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612379.2United Arab Emirates2NALikely PathogenicCongenital Disorder Of Glycosylation, Type IqKhan. 2020
612379.3.1United Arab Emirates2PathogenicCongenital Disorder Of Glycosylation, Type IqCantagrel et al. 2010; Al-Gazali et al. 2008; Morava et al. 2010 Proband. Emirati family of Baluchi origi...
612379.3.2United Arab Emirates2PathogenicCongenital Disorder Of Glycosylation, Type IqCantagrel et al. 2010; Al-Gazali et al. 2008; Morava et al. 2010 Brother of the proband. Emirati family o...
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Contributors

  • Asha Deepthi: 02.06.2021

Edit History

  • Sami Bizzari: 15.03.2022
  • Asha Deepthi: 02.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.