A101T (p.Ala101Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
A101T (p.Ala101Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- ExAC rs781389594
- gnomAD rs781389594
- Missense
- Structural context available