Variant information



Systematic Name c.1157_1200del44
Protein name p.Leu386fs
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_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 125
2 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 391
3 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 448
4 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 917
5 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 1151
6 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1457
7 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1698
8 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2008
9 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2107
10 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2108
11 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2109
12 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2110
13 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2111
14 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2112
15 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2625
16 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 2863
17 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3064
18 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3307
19 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3308
20 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3359
21 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-NK 3758
22 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-NK 3759
23 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-NK 3760
24 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3871
25 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4414
26 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4415
27 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4931
28 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6660
29 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6659
30 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6658