Variant information
Systematic Name (NM_004992.3:) |
c.1-?_26+?del (Deletion of exons 1 and 2) |
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Protein name (NP_004983) |
p.Met1? |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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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 |
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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 |