G324D (p.Gly324Asp) variant of IMPDH1 (P20839)
G324D (p.Gly324Asp) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa; not provided; Retinitis pigmentosa 10. The record also includes published literature.
G324D (p.Gly324Asp) variant details
- p.Gly324Asp
- UniProt VAR 065620
- Conflicting interpretations
- Retinitis pigmentosa; not provided; Retinitis pigmentosa 10
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa; not provided; Retinitis pigmentosa 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)