Proband information


Proband id 123
Systematic Name
(NM_004992.3:)		 c.258_259delCA
Protein name
(NP_004983)		 p.Ile87fs
Alternate systematic Name
(NM_001110792.1:)		 c.294_295delCA
Alternate Protein name
(NP_001104262)		 p.(Ile99Hisfs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297776_153297777delTG
Mutation type Frameshift insertion or deletion
Domain MBD
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-Not certain
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.258_259delCA p.Ile87fs Female Variation not found in parents Rett syndrome-Not certain 123 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