Variant information



Systematic Name c.426C>T
Protein name p.Phe142Phe
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.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Not certain 45
2 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Atypical 364
3 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 365
4 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Male Not Rett synd. 1885
5 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2505
6 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2506
7 c.426C>T p.Phe142Phe silent MBD Silent polymorphism Unknown Not Rett synd. 4622