Proband information


Proband id 1239
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 sister 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 Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Progressive encephalopathy of neonatal onset
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