Variant information
Systematic Name (NM_004992.3:) |
c.710dupG |
---|---|
Protein name (NP_004983) |
p.Gly238fs |
Alternate systematic Name (NM_001110792.1:) |
c.746dupG |
Alternate Protein name (NP_001104262) |
p.(Gly250Trpfs*21) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296569dupC |
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.710dupG | p.Gly238fs | Female | Rett syndrome-Not certain | 32 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
2 | c.710dupG | p.Gly238fs | Female | Rett syndrome-Classical | 386 | ::: | View details |
3 | c.710dupG | p.Gly238fs | Female | Rett syndrome-Classical | 1424 | 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.710dupG | p.Gly238fs | Female | Not Known | 1795 | :Friez, Michael:: | View details |
5 | c.710dupG | p.Gly238fs | Female | Rett syndrome-classical | 2896 | MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 | View details |
6 | c.710dupG | p.Gly238fs | Female | Rett syndrome-not certain | 5066 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
7 | c.710dupG | p.Gly238fs | Female | Rett syndrome-classical | 6633 | ::: | View details |