Variant information


Systematic Name c.1071C>T
Protein name p.Ser357Ser
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection dhplc
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1071C>T p.Ser357Ser Silent C-term Silent polymorphism Female Not Rett synd. 211 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
2 c.1071C>T p.Ser357Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1627 :Bunyan, D.::