NM_000044.4:c.2668G>A

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HGVS Expressions

  • NG_009014.2:g.184715G>A
  • NM_000044.4:c.2668G>A
  • NP_000035.2:p.Val890Met
  • NC_000023.11:g.67723746G>A

Associated Genes

Androgen Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886041133

Clinvar

279690

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300068.1Egypt1PathogenicAndrogen Insensitivity SyndromeEssawi et al. 1997 XY individual reared as female
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Contributors

  • Pratibha Nair: 26.06.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 31.12.2018
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© CAGS 2024. All rights reserved.