Variant information
Systematic Name (NM_004992.3:) |
c.1357C>T |
---|---|
Protein name (NP_004983) |
p.Arg453* |
Alternate systematic Name (NM_001110792.1:) |
c.1393C>T |
Alternate Protein name (NP_001104262) |
p.(Arg465*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295922G>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.1357C>T | p.Arg453* | Female | Rett syndrome-Preserved speech | 2388 | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 | View details |
2 | c.1357C>T | p.Arg453* | Female | Not Known | 4422 | :Das, S., Dempsey, M. U. Chicago:: | View details |