Variant information

Systematic Name c.1284C>T
Protein name p.Gly428Gly
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information

Source of DNA blood
Detection SSCP
Extent 80% of MECP2
Number of chromosomes checked 40 chromosomes tested and not found in 40 chromosomes
Carrier status checked Not checked
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1284C>T p.Gly428Gly silent C-term Silent polymorphism Female Rett syndrome-classical 3816 :Khajuria, R::