Proband information
Proband id | 6874 |
---|---|
Systematic Name (NM_004992.3:) |
c.*92C>T |
Protein name (NP_004983) |
Intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.*92C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295726G>A |
Mutation type | 3' UTR variation |
Domain | 3' UTR |
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.*92C>T | 3'UTR variation | Female | Rett syndrome-Classical | 2638 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
2 | c.*92C>T | Intronic variation | Female | Not Rett synd. | 6874 | 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 |