T36M (p.Thr36Met) variant of PTCH1 (Protein patched homolog 1)
T36M (p.Thr36Met) 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.
T36M (p.Thr36Met) variant details
- p.Thr36Met
- TOPMed rs1449765833
- gnomAD rs1449765833
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available