Variant information


Systematic Name c.1-?_26+?del (Deletion of exons 1 and 2)
Protein name p.Met1?
Mutation type frameshift insertion of deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood or fibroblasts
Detection MLPA P015 after direct sequencing
Extent all coding exons
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients:Erlandson, A., Samuelsson, L., Hagberg, B., Kyllerman, M., Vujic, M., Wahlström, J.:Genetic Testing: 15000811

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? frameshift insertion of deletion N-term Mutation associated with disease Female Rett syndrome-classical 2907 Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients:Erlandson, A., Samuelsson, L., Hagberg, B., Kyllerman, M., Vujic, M., Wahlström, J.:Genetic Testing: 15000811