NM_000197.2:c.238C>T

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  2. NM_000197.2:c.238C>T

HGVS Expressions

  • NG_008157.1:g.52246C>T
  • NM_000197.2:c.238C>T
  • NP_000188.1:p.Arg80Trp

Associated Genes

17-Beta Hydroxysteroid Dehydrogenase III
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Genomic Location

chr9:96254907

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119481077

Clinvar

4877

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264300.1Lebanon2Pathogenic17-Beta Hydroxysteroid Dehydrogenase III DeficiencyGeorge et al. 2011
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Contributors

  • Pratibha Nair: 01.07.2020

Edit History

  • Pratibha Nair: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.