Variant information



Systematic Name c.1233C>T
Protein name p.Ser411Ser
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Unknown Rett syndrome-Classical 850
2 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1130
3 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1131
4 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1132
5 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1133
6 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1134
7 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1135
8 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Not Rett synd. 1557
9 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 1819
10 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1838
11 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Known 2030
12 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Female Not Rett synd. 2379
13 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2380
14 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2381
15 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2382
16 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2383
17 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2525
18 c.1233C>T p.Ser411Ser Silent C-term Silent polymorphism Male Not Rett synd. 2526
19 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Unknown Not Rett synd. 2670
20 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-not certain 4289
21 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-not certain 4290
22 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-not certain 4291
23 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-not certain 4292
24 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-Classical 4345
25 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Not Rett synd. 4389
26 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Unknown Not Rett synd. 4606
27 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Unknown Not Rett synd. 4607
28 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Unknown Not Rett synd. 4608
29 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Female Rett syndrome-not certain 5217
30 c.1233C>T p.Ser411Ser silent C-term Silent polymorphism Unknown Not Rett synd. 5218