Variant information



Systematic Name c.806delG
Protein name p.Gly269fs
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 21
2 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 137
3 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 308
4 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 309
5 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 342
6 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 472
7 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1113
8 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1114
9 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1148
10 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1426
11 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1452
12 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1495
13 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1496
14 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Rett synd. 1497
15 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1498
16 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1618
17 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1680
18 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1702
19 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1744
20 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1812
21 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1843
22 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1896
23 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1897
24 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 1926
25 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 1965
26 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1981
27 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 2010
28 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Known 2060
29 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2095
30 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2096
31 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2097
32 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2604
33 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2605
34 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 2794
35 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3007
36 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3268
37 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3269
38 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3270
39 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3271
40 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3272
41 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3273
42 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3274
43 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3598
44 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3599
45 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3600
46 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3601
47 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3602
48 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3603
49 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3604
50 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3765
51 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4071
52 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4707
53 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4850
54 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4915
55 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5064
56 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5065
57 c.806delG p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Female Rett syndrome-preserved speech 6744
58 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6610
59 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6609
60 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6608
61 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 6607
62 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6606
63 c.806delG p.Gly269fs nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6578