E9G (p.Glu9Gly) variant of PTCH1 (Protein patched homolog 1)
E9G (p.Glu9Gly) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- Ensembl rs1843913965
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available