Variant information


Systematic Name MECP2_e1: c.23_27dupCGCCG
Protein name MeCP2_e1: p.S10Rfs*37
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA NK
Detection direct
Extent promoter and exon 1
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 2802 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422