Proband information


Proband id 4844
Systematic Name
(NM_004992.3:)		 c.[426C>T(;) 502C>T]
Protein name
(NP_004983)		 p.[Phe142Phe(;) Arg168*]
Alternate systematic Name
(NM_001110792.1:)		 c.[462C>T;538C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296853G>A;153296777G>A]
Mutation type nonsense, silent
Domain inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DGGE, ECMA
Extent exons 3 and 4 only
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.[426C>T(;) 502C>T] p.[Phe142Phe(;) Arg168*] 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