Variant information



Systematic Name c.1164_1207del44
Protein name p.Pro389*
Mutation type frameshift insertion or deletion
Domain c-term
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.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 14
2 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 22
3 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 349
4 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1121
5 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1594
6 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1611
7 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1693
8 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1848
9 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2184
10 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2185
11 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2186
12 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2187
13 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2188
14 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2189
15 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2190
16 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2487
17 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2627
18 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2628
19 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2629
20 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 2755
21 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 2884
22 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 2885
23 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3011
24 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3065
25 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3066
26 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3315
27 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 3982
28 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 5300
29 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4308
30 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4316
31 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Known 4417
32 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4418
33 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4790
34 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4791
35 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 4792
36 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 4793
37 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4794
38 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4856
39 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-preserved speech 6758
40 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-classical 6757
41 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-atypical 6756
42 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Not Known 6755
43 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 6673
44 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6674
45 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6664
46 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6663
47 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6662
48 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6661