D26E (p.Asp26Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
D26E (p.Asp26Glu) 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.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- rs2040639110
- ClinGen CA385990193
- ClinVar RCV002305195
- 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)