N115K (p.Asn115Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
N115K (p.Asn115Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome. The record also includes published literature and structural context.
N115K (p.Asn115Lys) variant details
- p.Asn115Lys
- rs2501711671
- ClinGen CA385987618
- ClinVar RCV002299078
- ClinVar RCV005608692
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)