NM_000044.4:c.2521C>A

HGVS Expressions

  • NG_009014.2:g.183867C>A
  • NM_000044.4:c.2521C>A
  • NP_000035.2:p.Arg841Ser
  • NC_000023.11:g.67722898C>A

Associated Genes

Androgen Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9830

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300068.3Egypt1PathogenicAndrogen Insensitivity SyndromeMazen et al. 2004 XY individual reared as female, reassign...
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