Y90C (p.Tyr90Cys) variant of PAX6 (Paired box protein Pax-6)
Y90C (p.Tyr90Cys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Aniridia 1; not provided. The record also includes structural context.
Y90C (p.Tyr90Cys) variant details
- p.Tyr90Cys
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99570
- Conflicting interpretations
- Aniridia 1; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Aniridia 1; not provided)
- UniProt: Conflicting interpretations
- Structural context available