Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[=/808delC] p.[=/Arg270fs] Male Not Rett synd. 3988 Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328 View details