Variant information
Systematic Name (NM_004992.3:) |
c.573delC |
---|---|
Protein name (NP_004983) |
p.Ser194Alafs*16 |
Alternate systematic Name (NM_001110792.1:) |
c.609delC |
Alternate Protein name (NP_001104262) |
p.(Ser206Alafs*16) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296706delG |
Mutation type | frameshift insertion or deletion |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.573delC | p.Ser194Alafs*16 | 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 | View details |