T116M (p.Thr116Met) variant of IMPDH1 (P20839)
T116M (p.Thr116Met) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature.
T116M (p.Thr116Met) variant details
- p.Thr116Met
- UniProt VAR 065617
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in RP10)
- UniProt: Pathogenic (in RP10)
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)
- Cited in: Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative… (PMID 11875049)