Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
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 View details