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
Number of chromosomes checked
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