G272D (p.Gly272Asp) variant of RPGR (Q92834)
G272D (p.Gly272Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia. The record also includes structural context.
G272D (p.Gly272Asp) variant details
- p.Gly272Asp
- cosmic curated COSV10736
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- UniProt: Likely pathogenic
- Structural context available