I29T (p.Ile29Thr) variant of PAX6 (Paired box protein Pax-6)
I29T (p.Ile29Thr) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided. The record also includes experimental measurements, published literature, and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- rs2496297509
- ClinGen CA379959573
- ClinVar RCV002292107
- ClinVar RCV003097807
- Conflicting interpretations
- Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.21
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)