NM_000044.4:c.2452C>G

HGVS Expressions

  • NG_009014.2:g.183798C>G
  • NM_000044.4:c.2452C>G
  • NP_000035.2:p.Pro818Ala
  • NC_000023.11:g.67722829C>G

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
300068.4.1Egypt1PathogenicAndrogen Insensitivity SyndromeLumbroso et al. 2004
300068..4.2Egypt1PathogenicLumbroso et al. 2004 Mother of 300068.4.1
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