Variant information
Systematic Name (NM_004992.3:) |
c.820_823dupAGTG |
---|---|
Protein name (NP_004983) |
p.Val275Glufs*57 |
Alternate systematic Name (NM_001110792.1:) |
c.856_859dupAGTG |
Alternate Protein name (NP_001104262) |
p.(Val287Glufs*57) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296456_153296459dupCACT |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.820_823dupAGTG | p.Val275Glufs*57 | Female | Rett syndrome-classical | 6747 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details |