NM_000196.4:c.662C>T

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  2. NM_000196.4:c.662C>T

HGVS Expressions

  • NG_016549.1:g.10008C>T
  • NM_000196.4:c.662C>T
  • NP_000187.3:p.Ala221Val
  • NC_000016.10:g.67436140C>T

Associated Genes

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

Pathogenic

Variant Type

Substitution

dbSNP

1329450118

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614232.4Oman2PathogenicApparent Mineralocorticoid ExcessYau et al. 2017
614232.5Oman2PathogenicApparent 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.