NM_000197.2:c.239G>A

  1. Home
  2. NM_000197.2:c.239G>A

HGVS Expressions

  • NG_008157.1:g.52247G>A
  • NM_000197.2:c.239G>A
  • NP_000188.1:p.Arg80Gln

Associated Genes

17-Beta Hydroxysteroid Dehydrogenase III
Back to search Result
Genomic Location

chr9:96254906

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119481075

Clinvar

4874

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264300.G.1Palestine42Pathogenic17-Beta Hydroxysteroid Dehydrogenase III DeficiencyRosler, 2007 Group of 21 males from 9 extended Arab f...
264300.G.2Palestine6Pathogenic17-Beta Hydroxysteroid Dehydrogenase III DeficiencyRosler, 2007 Group of 3 females
Download Table

Contributors

  • Sayeeda Hana: 21.04.2020

Edit History

  • Sayeeda Hana: 21.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.