Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.27-4722_*112delinsCACTTTGTG p.Arg9fs Female Rett syndrome-not certain 3343 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 View details