Variant information


Systematic Name c.488_489delGG
Protein name p.Gly163fs
Mutation type Frameshift insertion or deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Not known
Detection direct
Extent Not known
Number of chromosomes checked
Carrier status checked Yes
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., GabreŽls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease 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., GabreŽls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274
2 c.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease 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., GabreŽls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274