Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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.1357C>T p.Arg453* Female Rett syndrome-Preserved speech 2388 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 View details
2 c.1357C>T p.Arg453* Female Not Known 4422 :Das, S., Dempsey, M. U. Chicago:: View details