Variant information


Systematic Name c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]
Protein name p.Lys377fs
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA lymphoblastoid cell lines
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result NK
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Rett syndrome-not certain
Reference Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3356 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860