D312N (p.Asp312Asn) variant of RPGR (Q92834)
D312N (p.Asp312Asn) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPGR-related retinopathy. The record also includes published literature and structural context.
D312N (p.Asp312Asn) variant details
- p.Asp312Asn
- UniProt VAR 018065
- Uncertain significance
- RPGR-related retinopathy
- Missense
- ClinVar: Uncertain significance (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. (PMID 14564670)
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)