Variant information
Systematic Name (NM_004992.3:) |
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) |
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Protein name (NP_004983) |
p.Arg9fs |
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 or 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.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) | p.Arg9fs | Female | Rett syndrome-classical | 2905 | Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251 | View details |