Variant information
Systematic Name (NM_004992.3:) |
c.472A>G |
---|---|
Protein name (NP_004983) |
p.Thr158Ala |
Alternate systematic Name (NM_001110792.1:) |
c.508A>G |
Alternate Protein name (NP_001104262) |
p.(Thr170Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296807T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.472A>G | p.Thr158Ala | Female | Rett syndrome-Preserved speech | 1463 | 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 |
2 | c.472A>G | p.Thr158Ala | Female | Rett syndrome-classical | 1939 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |