Proband information


Proband id 127
Systematic Name
(NM_004992.3:)		 c.1364_1365insC
Protein name
(NP_004983)		 p.Glu455fs
Alternate systematic Name
(NM_001110792.1:)		 c.1400_1401insC
Alternate Protein name
(NP_001104262)		 p.(Glu467Aspfs*32)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295914_153295915insG
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Variation not found in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Congenital onset
Reference Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1364_1365insC p.Glu455fs Female Variation not found in parents Rett syndrome-Congenital onset 127 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718