A28G (p.Ala28Gly) variant of PTCH1 (Protein patched homolog 1)
A28G (p.Ala28Gly) 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 not provided. The record also includes structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- TOPMed rs1220641430
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available