A688V (p.Ala688Val) variant of AR (Androgen receptor)
A688V (p.Ala688Val) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Androgen resistance syndrome; Kennedy disease. The record also includes published literature and structural context.
A688V (p.Ala688Val) variant details
- p.Ala688Val
- Ensembl rs2147524879
- UniProt VAR 009768
- Pathogenic/Likely pathogenic
- not provided; Androgen resistance syndrome; Kennedy disease
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: The clinical and molecular spectrum of androgen insensitivity syndromes. (PMID 8723113)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)