Variant information
Systematic Name (NM_004992.3:) |
c.777C>T |
---|---|
Protein name (NP_004983) |
p.Ala259Ala |
Alternate systematic Name (NM_001110792.1:) |
c.813C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296502G>A |
Mutation type | Silent |
Domain | TRD-NLS |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.777C>T | p.Ala259Ala | Unknown | Rett syndrome-Not certain | 1374 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
2 | c.777C>T | p.Ala259Ala | Unknown | Rett syndrome-Not certain | 1375 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
3 | c.777C>T | p.Ala259Ala | Female | Rett syndrome-Classical | 1431 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
4 | c.777C>T | p.Ala259Ala | Female | Not Rett synd. | 1846 | :Bunyan, D.:: | View details |
5 | c.777C>T | p.Ala259Ala | Female | Rett syndrome-Not certain | 1894 | ::: | View details |
6 | c.777C>T | p.Ala259Ala | Female | Not Rett synd. | 4387 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |