Variant information
Systematic Name (NM_004992.3:) |
c.1116_1201del86 |
---|---|
Protein name (NP_004983) |
p.His372fs |
Alternate systematic Name (NM_001110792.1:) |
c.1152_1237del86 |
Alternate Protein name (NP_001104262) |
p.(His384Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296078_153296163del86 |
Mutation type | frameshift insertion or deletion |
Domain | c-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1116_1201del86 | p.His372fs | Female | Rett syndrome-Classical | 1477 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
2 | c.1116_1201del86 | p.His372fs | Female | Rett syndrome-Classical | 2099 | :Cardiff, UK:: | View details |
3 | c.1116_1201del86 | p.His372fs | Female | Rett syndrome-Classical | 2623 | 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 | View details |