V13D (p.Val13Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
V13D (p.Val13Asp) 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 CEP290-related ciliopathy. The record also includes published literature and structural context.
V13D (p.Val13Asp) variant details
- p.Val13Asp
- rs2501865235
- ClinGen CA385990383
- ClinVar RCV003040160
- ClinVar RCV003319535
- Uncertain significance
- CEP290-related ciliopathy
- Missense
- ClinVar: Uncertain significance (CEP290-related ciliopathy)
- 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)