G16A (p.Gly16Ala) variant of PTCH1 (Protein patched homolog 1)
G16A (p.Gly16Ala) 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.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- Ensembl rs1843909922
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available