Variant information
Systematic Name (NM_004992.3:) |
c.289G>T |
---|---|
Protein name (NP_004983) |
p.Asp97Tyr |
Alternate systematic Name (NM_001110792.1:) |
c.325G>T |
Alternate Protein name (NP_001104262) |
p.(Asp109Tyr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297746C>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.289G>T | p.Asp97Tyr | Female | Rett syndrome-Not certain | 28 | 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.289G>T | p.Asp97Tyr | Female | Rett syndrome-Classical | 1221 | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 | View details |
3 | c.289G>T | p.Asp97Tyr | Female | Rett syndrome-not certain | 2646 | Rett Syndrome: Clinical and molecular characterization of two Brazilian patients:Stachon, A., Assumpção, F.B. Jr, Raskin, S.:Arq Neuropsiquiatr: 17420824 | View details |
4 | c.289G>T | p.Asp97Tyr | Female | Rett syndrome-Classical | 4346 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |