Variant information

Systematic Name
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs Female Rett syndrome-not certain 3341 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