G72A (p.Gly72Ala) variant of PAX6 (Paired box protein Pax-6)
G72A (p.Gly72Ala) 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 published literature and structural context.
G72A (p.Gly72Ala) variant details
- p.Gly72Ala
- rs2496144154
- ClinGen CA379958861
- ClinVar RCV003800869
- 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
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)