Variant information


Systematic Name c.1117_1203del87
Protein name p.Ser373_Ser401del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection DGGE, ECMA
Extent exons 3 and 4 only
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
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.1117_1203del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Female Rett syndrome-atypical 4852 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