R34S (p.Arg34Ser) variant of PTCH1 (Protein patched homolog 1)
R34S (p.Arg34Ser) 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.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- Ensembl rs2118908666
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available