Variant information



Systematic Name c.378-17delT
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
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.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 20
2 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 207
3 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Atypical 470
4 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 1233
5 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Unknown Rett syndrome-Not certain 1372
6 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1575
7 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1596
8 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Unknown Not Rett synd. 1597
9 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1638
10 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1646
11 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1647
12 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1817
13 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1818
14 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1825
15 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1976
16 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1977
17 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2024
18 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2027
19 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2051
20 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2063
21 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 2387
22 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 2517
23 c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 2518
24 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 2642
25 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 2649
26 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 2650
27 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 2651
28 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 2663
29 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 2765
30 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 2766
31 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 2780
32 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3918
33 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3921
34 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3922
35 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3923
36 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 3924
37 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 3925
38 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 3926
39 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 3927
40 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 3928
41 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 3976
42 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3990
43 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3991
44 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3992
45 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3993
46 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 3994
47 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 4352
48 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 4353
49 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5146
50 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5147
51 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5148
52 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5149
53 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5150
54 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5151
55 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5152
56 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5153
57 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5154
58 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5155
59 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5156
60 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5157
61 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5158
62 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5159
63 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5160
64 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5161
65 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5162
66 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5163
67 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5164
68 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5165
69 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5166
70 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5167
71 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5168
72 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5169
73 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5170
74 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5171
75 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5172
76 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5173
77 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5174
78 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5175
79 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5176
80 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5177
81 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5178
82 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5179
83 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5180
84 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5181
85 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5182
86 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5183
87 c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5184
88 c.378-17delT intronic intronic Polymorphism not causing disease Female Not Rett synd. 6852
89 c.378-17delT intronic intronic Polymorphism not causing disease Female Not Rett synd. 6851
90 c.378-17delT intronic intronic Polymorphism not causing disease Female Not Rett synd. 6850