Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain C-term
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1133C>G p.Ala378Gly Female Rett syndrome-classical 4099 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details
2 c.1133C>G Female Not Rett synd. 6864 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