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 |