NM_000044.4:c.2567G>A

HGVS Expressions

  • NG_009014.2:g.183913G>A
  • NM_000044.4:c.2567G>A
  • NP_000035.2:p.Arg856His
  • NC_000023.11:g.67722944G>A

Associated Genes

Androgen Receptor
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

9332971

Clinvar

9823

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300068.5.1Kuwait1PathogenicAndrogen Insensitivity SyndromeBatch et al. 1993 Sibling of 300068.5.2
300068.5.2Kuwait1PathogenicAndrogen Insensitivity SyndromeBatch et al. 1993 Sibling of 300068.5.1
© CAGS 2024. All rights reserved.