G19R (p.Gly19Arg) variant of PTCH1 (Protein patched homolog 1)
G19R (p.Gly19Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- ExAC rs778460384
- TOPMed rs778460384
- gnomAD rs778460384
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available