Proband information


Proband id 6747
Systematic Name
(NM_004992.3:)		 c.820_823dupAGTG
Protein name
(NP_004983)		 p.Val275Glufs*57
Alternate systematic Name
(NM_001110792.1:)		 c.856_859dupAGTG
Alternate Protein name
(NP_001104262)		 p.(Val287Glufs*57)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296456_153296459dupCACT
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,father-negative,2 siblings(prenatal diagnosis)-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.820_823dupAGTG p.Val275Glufs*57 Female mother-negative,father-negative,2 siblings(prenatal diagnosis)-negative Rett syndrome-classical 6747 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