NM_000196.4:c.343_348del

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  2. NM_000196.4:c.343_348del

HGVS Expressions

  • NG_016549.1:g.9573_9578del
  • NM_000196.4:c.343_348del
  • NP_000187.3:p.Glu115_Leu116del
  • NC_000016.10:g.67435705_67435710del

Associated Genes

11-Beta-Hydroxysteroid Dehydrogenase, Type II
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

794726669

Clinvar

12100

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614232.18Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
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Contributors

  • Pratibha Nair: 21.09.2023

Edit History

  • Pratibha Nair: 21.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.