Variant information
Systematic Name (NM_004992.3:) |
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] |
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Protein name (NP_004983) |
p.His371Glyfs*7 |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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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 | View details |