NM_000196.4:c.220_222delinsGG

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HGVS Expressions

  • NG_016549.1:g.5336_5338delinsGG
  • NM_000196.4:c.220_222delinsGG
  • NP_000187.3:p.Arg74GlyfsTer43
  • NC_000016.10:g.67431468_67431470delinsGG

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1567529174

Clinvar

623310

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614232.8Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.9Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.13Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.14Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.15Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.16Oman2PathogenicApparent 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.