Variant information



Systematic Name c.1189G>A
Protein name
Mutation type nonsense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 205
2 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Classical 398
3 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Rett synd. 399
4 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 437
5 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1129
6 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Rett synd. 1394
7 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1499
8 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 1500
9 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Rett synd. 1501
10 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Unknown Not Rett synd. 1502
11 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 1503
12 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 1573
13 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 1589
14 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1835
15 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1909
16 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1910
17 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Rett synd. 1974
18 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Known 2009
19 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Known 2026
20 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Known 2039
21 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Known 2130
22 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Male Not Known 2152
23 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 2522
24 c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Female Not Rett synd. 2523
25 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 2656
26 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Male Not Rett synd. 2667
27 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 2774
28 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Male Not Rett synd. 3028
29 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3077
30 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 3919
31 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4076
32 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 4077
33 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 4078
34 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 4610
35 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 4611
36 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 4612
37 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 4613
38 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4757
39 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 4819
40 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-atypical 4861
41 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 5068
42 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 5211
43 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 5212
44 c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5213
45 c.1189G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6867
46 c.1189G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6866
47 c.1189G>A missense C-term Polymorphism not causing disease Female Not Rett synd. 6914
48 c.1189G>A nonsense C-term Polymorphism not causing disease Female Not Known 6902