R33G (p.Arg33Gly) variant of PTCH1 (Protein patched homolog 1)
R33G (p.Arg33Gly) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- TOPMed rs1843899190
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available