Proband information


Proband id 2887
Systematic Name
(NM_004992.3:)		 c.734_759del26
Protein name
(NP_004983)		 p.Val245fs
Alternate systematic Name
(NM_001110792.1:)		 c.770_795del26
Alternate Protein name
(NP_001104262)		 p.(Val257Glufs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296520_153296545del26
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP
Extent all coding regions
Source of DNA not known
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.734_759del26 p.Val245fs Female de novo Rett syndrome-classical 2887 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102