Proband information


Proband id 4306
Systematic Name
(NM_004992.3:)		 c.343_1282del
Protein name
(NP_004983)		 p.Arg115_Glu394del
Alternate systematic Name
(NM_001110792.1:)		 c.379_1318del
Alternate Protein name
(NP_001104262)		 p.(Arg127Alafs*54)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295997_153297692del
Mutation type in-frame insertion or deletion
Domain MBD, inter-domain, TRD, TRD-NLS, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.343_1282del p.Arg115_Glu394del Female Rett syndrome-not certain 4306 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677