N124K (p.Asn124Lys) variant of PAX6 (Paired box protein Pax-6)
N124K (p.Asn124Lys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coloboma, ocular, autosomal dominant. The record also includes published literature and structural context.
N124K (p.Asn124Lys) variant details
- p.Asn124Lys
- rs2496002747
- ClinGen CA379958388
- ClinVar RCV003883475
- ClinGen CA379958389
- Pathogenic
- Coloboma, ocular, autosomal dominant
- Missense
- ClinVar: Pathogenic (Coloboma, ocular, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on… (PMID 31700164)