Variant information
Systematic Name (NM_004992.3:) |
c.488_489delGG |
---|---|
Protein name (NP_004983) |
p.Gly163fs |
Alternate systematic Name (NM_001110792.1:) |
c.524_525delGG |
Alternate Protein name (NP_001104262) |
p.(Gly175Glufs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296790_153296791delCC |
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.488_489delGG | p.Gly163fs | Male | Not Rett synd. | 1239 | MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings:Geerdink, N., Rotteveel, J. J., Lammens, M., Sistermans, E. A., Heikens, G. T., Gabreëls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274 | View details |
2 | c.488_489delGG | p.Gly163fs | Female | Rett syndrome-Classical | 1240 | MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings:Geerdink, N., Rotteveel, J. J., Lammens, M., Sistermans, E. A., Heikens, G. T., Gabreëls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274 | View details |