R412* (p.Arg412Ter) variant of RPGR (Q92834)
R412* (p.Arg412Ter) in RPGR (Q92834) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R412* (p.Arg412Ter) variant details
- p.Arg412Ter
- rs1601943268
- ClinGen CA412739725
- cosmic curated COSV58840
- ClinVar RCV000787706
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)