Variant information



Systematic Name c.808delC
Protein name p.Arg270fs
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2
2 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 34
3 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 189
4 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1115
5 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1870
6 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2287
7 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2288
8 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 2793
9 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 2797
10 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 2798
11 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2861
12 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 2968
13 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3275
14 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3411
15 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3743
16 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3766
17 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4224
18 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Rett syndrome-male variant 4225
19 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6605
20 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6604