Variant information



Systematic Name c.1168_1173del6
Protein name
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Not certain 4
2 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Not Known 2049
3 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 2068
4 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Not certain 2191
5 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-atypical 2891
6 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 5250
7 c.1168_1173del6 frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6865
8 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6650
9 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6649
10 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6648
11 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Male Not Rett synd. 6647
12 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 6614