NM_000196.4:c.622C>T

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HGVS Expressions

  • NG_016549.1:g.9968C>T
  • NM_000196.4:c.622C>T
  • NP_000187.3:p.Arg208Cys
  • NC_000016.10:g.67436100C>T

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121917780

Clinvar

12093

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614232.1Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.2Oman2PathogenicApparent 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.