Variant information
Systematic Name (NM_004992.3:) |
c.1216C>T |
---|---|
Protein name (NP_004983) |
p.Gln406* |
Alternate systematic Name (NM_001110792.1:) |
c.1252C>T |
Alternate Protein name (NP_001104262) |
p.(Gln418*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296063G>A |
Mutation type | Nonsense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1216C>T | p.Gln406* | Male | Not Rett synd. | 838 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 | View details |
2 | c.1216C>T | p.Gln406* | Female | Not Rett synd. | 1542 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 | View details |
3 | c.1216C>T | p.Gln406* | Male | Not Rett synd. | 1543 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 | View details |
4 | c.1216C>T | p.Gln406* | Female | Not Rett synd. | 1544 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 | View details |
5 | c.1216C>T | p.Gln406* | Female | Not Rett synd. | 2490 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 | View details |
6 | c.1216C>T | p.Gln406* | Female | Rett syndrome-not certain | 4914 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | View details |