L39R (p.Leu39Arg) variant of PTCH1 (Protein patched homolog 1)
L39R (p.Leu39Arg) 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.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- ExAC rs768063889
- gnomAD rs768063889
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available