Proband information


Proband id 4854
Systematic Name
(NM_004992.3:)
c.1160_1200del41insAGGGGTGG
Protein name
(NP_004983)
p.Pro387_Thr400delinsGlnGlyTrp
Alternate systematic Name
(NM_001110792.1:)
c.1196_1236delinsAGGGGTGG
Alternate Protein name
(NP_001104262)
p.(Pro399_Thr412delinsGlnGlyTrp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296079_153296119delinsCCACCCCT
Mutation type in-frame combined insertion and 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-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 Gender Carrier result Phenotype Proband id Reference
1 c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp 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