Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? 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 View details