Variant information


Systematic Name c.1216C>T
Protein name p.Gln406*
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent four exons
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease 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
2 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease 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
3 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease 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
4 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease 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
5 c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease 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
6 c.1216C>T p.Gln406* nonsense C-term Mutation associated with disease 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