NM_000044.4:c.2413T>C

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HGVS Expressions

  • NG_009014.2:g.182896T>C
  • NM_000044.4:c.2413T>C
  • NP_000035.2:p.Phe805Leu
  • NC_000023.11:g.67721927T>C

Associated Genes

Androgen Receptor
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300068.2Egypt1PathogenicAndrogen Insensitivity SyndromeGad et al. 2003 XY individual reared as female
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Contributors

  • Pratibha Nair: 26.06.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 31.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.