Proband information


Proband id 6748
Systematic Name
(NM_004992.3:)		 c.857_858dupAA
Protein name
(NP_004983)		 p.Ala287Lysfs*3
Alternate systematic Name
(NM_001110792.1:)		 c.893_894dupAA
Alternate Protein name
(NP_001104262)		 p.(Ala299Lysfs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296421_153296422dupTT
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection HRM,sequencing
Extent
Source of DNA blood
Carrier Y
Carrier result mother-negative,sister-negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.857_858dupAA p.Ala287Lysfs*3 Female mother-negative,sister-negative Rett syndrome-classical 6748 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561