G569W (p.Gly569Trp) variant of AR (Androgen receptor)
G569W (p.Gly569Trp) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The record also includes published literature and structural context.
G569W (p.Gly569Trp) variant details
- p.Gly569Trp
- rs1925886368
- ClinGen CA1139667601
- ClinVar RCV001219621
- Ensembl rs1925886368
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Likely pathogenic (in PAIS)
- UniProt: Likely pathogenic (in PAIS)
- Structural context available
- Cited in: Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the… (PMID 7910529)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)