Proband information


Proband id 4852
Systematic Name
(NM_004992.3:)
c.1117_1203del87
Protein name
(NP_004983)
p.Ser373_Ser401del
Alternate systematic Name
(NM_001110792.1:)
c.1153_1239del87
Alternate Protein name
(NP_001104262)
p.(Ser385_Ser413del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296076_153296162del87
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection DGGE, ECMA
Extent exons 3 and 4 only
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.1117_1203del87 p.Ser373_Ser401del 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