Proband information


Proband id 6872
Systematic Name
(NM_004992.3:)		 c.1449G>A
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.1485G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295830C>T
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection HRM, sequencing
Extent
Source of DNA blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Not Rett synd.-mental retardation
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.1449G>A p.(=) Female Not Rett synd. 6872 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