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