Variant information


Systematic Name c.[834C>T(;) 856_859delAAAG(;) 1180G>A]
Protein name p.[Ala278Ala(;) Lys286fs(;) Glu394Lys]
Mutation type silent, frameshift insertion or deletion, missense
Domain TRD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection SSCP
Extent 90% coding sequence of MECP2
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Yes
Carrier result negative
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.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] silent, frameshift insertion or deletion, missense TRD, C-term Mutation associated with disease Female Rett syndrome-classical 4397 :Khajuria, R.::