Proband information
Proband id | 1240 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Not known |
Source of DNA | Not known |
Carrier | Y |
Carrier result | Affected brother has variation, unaffected mother does not have variation, unaffected father not thought to have variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Familial |
Phenotype-class | Rett syndrome-Classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.488_489delGG | p.Gly163fs | Male | Affected sister has variation, unaffected mother does not have variation, unaffected father not thought to have variation | 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 |
2 | c.488_489delGG | p.Gly163fs | Female | Affected brother has variation, unaffected mother does not have variation, unaffected father not thought to have variation | 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 |