Proband information


Proband id 2659
Systematic Name
(NM_004992.3:)		 c.1162_1163delinsTA
Protein name
(NP_004983)		 p.Pro388*
Alternate systematic Name
(NM_001110792.1:)		 c.1198_1199delinsTA
Alternate Protein name
(NP_001104262)		 p.(Pro400*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296116_153296117delinsTA
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 140 chromosomes tested and not found in 140 chromosomes
Detection SSCP
Extent exons2-4
Source of DNA blood
Carrier Y
Carrier result negative in parents
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-sporadic mental retardation
Reference Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1162_1163delinsTA p.Pro388* Female negative in parents Not Rett synd. 2659 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248