A871G (p.Ala871Gly) variant of AR (Androgen receptor)
A871G (p.Ala871Gly) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Partial androgen insensitivity syndrome. The record also includes published literature and structural context.
A871G (p.Ala871Gly) variant details
- p.Ala871Gly
- ESP rs143040492
- ExAC rs143040492
- TOPMed rs143040492
- gnomAD rs143040492
- Likely pathogenic
- Partial androgen insensitivity syndrome
- Missense
- ClinVar: Likely pathogenic (Partial androgen insensitivity syndrome)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Etiologic classification of severe hypospadias: implications for prognosis and management. (PMID 9329414)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)