Variant information


Systematic Name c.573delC
Protein name p.Ser194Alafs*16
Mutation type frameshift insertion or deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection HRM,sequencing
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother,Father-Negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-congenital onset
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.573delC p.Ser194Alafs*16 frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-congenital onset 6738 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