G70A (p.Gly70Ala) variant of PAX5 (Paired box protein Pax-5)
G70A (p.Gly70Ala) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- Ensembl rs1839776228
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance