Proband information
Proband id | 6849 |
---|---|
Systematic Name (NM_004992.3:) |
c.378-65C>G |
Protein name (NP_004983) |
|
Alternate systematic Name (NM_001110792.1:) |
c.414-65C>G |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296966G>C |
Mutation type | intronic |
Domain | intronic |
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.378-65C>G | Female | Not Rett synd. | 6849 | 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 |