D133N (p.Asp133Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
D133N (p.Asp133Asn) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
D133N (p.Asp133Asn) variant details
- p.Asp133Asn
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58350
- Ensembl rs1592693373
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available