Proband information
Proband id | 6754 |
---|---|
Systematic Name (NM_004992.3:) |
c.1163_1200del38 |
Protein name (NP_004983) |
p.Pro388Glnfs*4 |
Alternate systematic Name (NM_001110792.1:) |
c.1199_1236del38 |
Alternate Protein name (NP_001104262) |
p.(Pro400Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296116del38 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | HRM,sequencing |
Extent | |
Source of DNA | blood |
Carrier | Y |
Carrier result | Mother,Sister-Negative |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-preserved speech |
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.1163_1200del38 | p.Pro388Glnfs*4 | Female | Mother,Sister-Negative | Rett syndrome-preserved speech | 6754 | 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 |