Variant information



Systematic Name c.1126C>T
Protein name p.Pro376Ser
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 152
2 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 153
3 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1538
4 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1539
5 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1570
6 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1655
7 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1724
8 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1757
9 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1908
10 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 2126
11 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 2153
12 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2493
13 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2495
14 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-classical 2858
15 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4045
16 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4072
17 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4073