A285T (p.Ala285Thr) variant of IMPDH1 (P20839)
A285T (p.Ala285Thr) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Leber congenital amaurosis 11; Retinitis pigmentosa 10. The record also includes published literature.
A285T (p.Ala285Thr) variant details
- p.Ala285Thr
- UniProt VAR 065619
- Conflicting interpretations
- not specified; Leber congenital amaurosis 11; Retinitis pigmentosa 10
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; Leber congenital amaurosis 11; Retinitis pigmento)
- UniProt: Conflicting interpretations
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)