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., GabreŽls, 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., GabreŽls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.:Neuropediatrics: 11930274 View details