Proband information


Proband id 4853
Systematic Name
(NM_004992.3:)		 c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]
Protein name
(NP_004983)		 p.His371Glyfs*7
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift combined insertion and deletion
Domain C-term
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 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.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 Female Rett syndrome-classical 4853 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