Variant information
Systematic Name (NM_004992.3:) |
c.566delG |
---|---|
Protein name (NP_004983) |
p.Gly189fs |
Alternate systematic Name (NM_001110792.1:) |
c.602delG |
Alternate Protein name (NP_001104262) |
p.(Gly201Aspfs*21) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296713delC |
Mutation type | Frameshift insertion or deletion |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.566delG | p.Gly189fs | Female | Rett syndrome-Classical | 1468 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |