Variant information



Systematic Name c.1157_1197del41
Protein name p.Leu386Hisfs*5
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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 39
2 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 347
3 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 482
4 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 1180
5 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1206
6 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1363
7 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1364
8 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1365
9 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1379
10 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1428
11 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1455
12 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1606
13 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1741
14 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1768
15 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1834
16 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2014
17 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2113
18 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2114
19 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2624
20 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 2770
21 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 2862
22 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 2910
23 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2971
24 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2972
25 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3046
26 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3047
27 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3063
28 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3292
29 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3305
30 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3306
31 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3511
32 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3512
33 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 4343
34 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4412
35 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4413
36 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4710
37 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4770
38 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4771
39 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4772
40 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4922
41 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 5135
42 c.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 6753
43 c.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6752
44 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6655
45 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6654
46 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6653
47 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6652