Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Female Not Rett synd. 2390 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