Variant information


Systematic Name c.1160_1200del41insAGGGGTGG
Protein name p.Pro387_Thr400delinsGlnGlyTrp
Mutation type in-frame combined insertion and deletion
Domain C-term
Pathogenicity Unknown

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 N
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.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Female Rett syndrome-classical 4854 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