Variant information



Systematic Name c.455C>G
Protein name p.Pro152Arg
Mutation type missense
Domain MBD
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.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 5
2 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 58
3 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 59
4 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 60
5 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 107
6 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 160
7 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 161
8 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 162
9 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 265
10 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 362
11 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 419
12 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 426
13 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1031
14 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1225
15 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1288
16 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1289
17 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1290
18 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1291
19 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1396
20 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1462
21 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Not Known 1764
22 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Not Known 1793
23 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2170
24 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2171
25 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2172
26 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2407
27 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2423
28 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Congenital onset 2461
29 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2468
30 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-Classical 2581
31 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 2871
32 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 2872
33 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-atypical 2957
34 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 2987
35 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3078
36 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3116
37 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3399
38 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3435
39 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3436
40 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3437
41 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3438
42 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3439
43 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3540
44 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 3541
45 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3646
46 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3647
47 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3648
48 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3649
49 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3650
50 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 3651
51 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4246
52 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-Classical 4363
53 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4438
54 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4439
55 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4440
56 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4441
57 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-not certain 4739
58 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 4848
59 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-atypical 4867
60 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 5067
61 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Rett synd. 5124
62 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 5234
63 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6731
64 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6730
65 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6537
66 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6536
67 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6535
68 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6534
69 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6533
70 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6532
71 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6531