Variant information



Systematic Name c.582C>T
Protein name p.Ser194Ser
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Rett synd. 209
2 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Rett synd. 210
3 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Atypical 431
4 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Male Not Rett synd. 432
5 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Unknown Rett syndrome-Not certain 1006
6 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Unknown Rett syndrome-Not certain 1005
7 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Unknown Rett syndrome-Not certain 1004
8 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Unknown Rett syndrome-Not certain 1003
9 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Classical 952
10 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Male Not Rett synd. 849
11 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Not certain 848
12 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Not certain 847
13 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Not certain 1124
14 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Not certain 1125
15 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Unknown Rett syndrome-Not certain 1193
16 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Not certain 1241
17 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Rett synd. 1576
18 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Male Rett syndrome-Not certain 1640
19 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Known 1811
20 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Male Not Rett synd. 1891
21 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Known 2037
22 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Not Known 2044
23 c.582C>T p.Ser194Ser Silent Inter-domain region Silent polymorphism Female Rett syndrome-Congenital onset 2401
24 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Not Rett synd. 2772
25 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Male Not Rett synd. 3023
26 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Male Not Rett synd. 3024
27 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Unknown Not Rett synd. 4200
28 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Rett syndrome-not certain 4273
29 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Not Rett synd. 4375
30 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Unknown Not Rett synd. 4627
31 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Unknown Not Rett synd. 4628
32 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Rett syndrome-not certain 4750
33 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Rett syndrome-not certain 5070
34 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Female Rett syndrome-not certain 5186
35 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Unknown Not Rett synd. 5187
36 c.582C>T p.Ser194Ser silent inter-domain region Silent polymorphism Unknown Not Rett synd. 5188
37 c.582C>T silent inter-domain region Silent polymorphism Female Not Rett synd. 6853
38 c.582C>T silent inter-domain region Silent polymorphism Female Not Rett synd. 6854