G16R (p.Gly16Arg) variant of PTCH1 (Protein patched homolog 1)
G16R (p.Gly16Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- TOPMed rs1057515721
- gnomAD rs1057515721
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available