R105W (p.Arg105Trp) variant of IMPDH1 (P20839)
R105W (p.Arg105Trp) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of IMPDH1-related disorder; Retinal dystrophy; not specified. The record also includes published literature.
R105W (p.Arg105Trp) variant details
- p.Arg105Trp
- UniProt VAR 065616
- Conflicting interpretations
- IMPDH1-related disorder; Retinal dystrophy; not specified
- Missense
- ClinVar: Conflicting classifications of pathogenicity (IMPDH1-related disorder; Retinal dystrophy; not specified)
- EBI: Pathogenic (in LCA11)
- UniProt: Pathogenic (in LCA11)
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)