Variant information


Systematic Name c.[426C>T(;) 502C>T]
Protein name p.[Phe142Phe(;) Arg168*]
Mutation type nonsense, silent
Domain inter-domain region
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection DGGE, ECMA
Extent exons 3 and 4 only
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[426C>T(;) 502C>T] p.[Phe142Phe(;) Arg168*] nonsense, silent inter-domain region Mutation associated with disease Female Rett syndrome-classical 4844 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064