Q66R (p.Gln66Arg) variant of RPGR (Q92834)
Q66R (p.Gln66Arg) in RPGR (Q92834) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 3; not provided. The record also includes structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- cosmic curated COSV58834
- Conflicting interpretations
- Retinitis pigmentosa 3; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 3; not provided)
- UniProt: Conflicting interpretations
- Structural context available