Variant information
Systematic Name (NM_004992.3:) |
c.736_737insAT |
---|---|
Protein name (NP_004983) |
p.Met246fs |
Alternate systematic Name (NM_001110792.1:) |
c.772_773insAT |
Alternate Protein name (NP_001104262) |
p.(Met258Asnfs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296542_153296543insAT |
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.736_737insAT | p.Met246fs | Female | Rett syndrome-Classical | 1425 | 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 |