N145D (p.Asn145Asp) variant of CEP290 (Centrosomal protein of 290 kDa)

N145D (p.Asn145Asp) 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.

N145D (p.Asn145Asp) variant details