NM_000196.4:c.956_964dup

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HGVS Expressions

  • NG_016549.1:g.10609_10617dup
  • NM_000196.4:c.956_964dup
  • NP_000187.3:p.Val321_Val322insAlaProVal
  • NC_000016.10:g.67436741_67436749dup

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1567530910

Clinvar

623311

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614232.6Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.7Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.11Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
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Contributors

  • Pratibha Nair: 20.09.2023

Edit History

  • Pratibha Nair: 20.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.