Variant information
Systematic Name (NM_004992.3:) |
c.898G>A |
---|---|
Protein name (NP_004983) |
p.Val300Ile |
Alternate systematic Name (NM_001110792.1:) |
c.934G>A |
Alternate Protein name (NP_001104262) |
p.(Val312Ile) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296381C>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.898G>A | p.Val300Ile | Female | Rett syndrome-Classical | 1400 | 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 |
2 | c.898G>A | p.Val300Ile | Female | Not Rett synd. | 4880 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
3 | c.898G>A | p.Val300Ile | Female | Not Rett synd. | 4881 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |