Q27H (p.Gln27His) variant of PAX6 (Paired box protein Pax-6)
Q27H (p.Gln27His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes experimental measurements, published literature, and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- rs1954524676
- ClinGen CA379959588
- ClinVar RCV002811622
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.353
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)