Variant information



Systematic Name c.375C>A
Protein name
Mutation type silent
Domain MBD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Unknown Rett syndrome-Not certain 1002
2 c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Female Rett syndrome-Not certain 1123
3 c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Female Rett syndrome-Not certain 1826
4 c.375C>A p.Ile125Ile silent MBD Silent polymorphism Unknown Not Rett synd. 4623
5 c.375C>A p.Ile125Ile silent MBD Silent polymorphism Unknown Not Rett synd. 4624
6 c.375C>A p.Ile125Ile silent MBD Silent polymorphism Unknown Not Rett synd. 4625
7 c.375C>A p.Ile125Ile silent MBD Silent polymorphism Female Rett syndrome-not certain 4749
8 c.375C>A silent MBD Silent polymorphism Female Not Rett synd. 6846