Variant information


Systematic Name
(NM_004992.3:)		 c.1363G>T
Protein name
(NP_004983)		 p.Glu455*
Alternate systematic Name
(NM_001110792.1:)		 c.1399G>T
Alternate Protein name
(NP_001104262)		 p.(Glu467*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295916C>A
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1363G>T p.Glu455* Female Rett syndrome-classical 4851 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 View details