NM_024592.5:c.57G>A

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  2. NM_024592.5:c.57G>A

HGVS Expressions

  • NG_028230.1:g.5173G>A
  • NM_024592.5:c.57G>A
  • NP_078868.1:p.Trp19Ter
  • NC_000004.12:g.55346393G>A

Associated Genes

Steroid 5-Alpha-Reductase 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

398124401

Clinvar

96125

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612379.1.1United Arab Emirates2PathogenicCongenital Disorder Of Glycosylation, Type IqBastaki et al. 2018
612379.1.2United Arab Emirates1Bastaki et al. 2018 Father of 612379.1.1
612379.1.3United Arab Emirates1Bastaki et al. 2018 Mother of 612379.1.1
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Contributors

  • Sayeeda Hana: 31.03.2021

Edit History

  • Sayeeda Hana: 31.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.