Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.411delG p.Glu137fs Unknown Rett syndrome-Not certain 1484 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 View details