Variant information
Systematic Name (NM_004992.3:) |
c.[27-5690_1208del7628ins42];[439G>A] |
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Protein name (NP_004983) |
p.[Arg9fs];[Asp147Asn] |
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 combined insertion and deletion, missense |
Domain | N-term, MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[27-5690_1208del7628ins42];[439G>A] | p.[Arg9fs];[Asp147Asn] | Female | Rett syndrome-classical | 2906 | 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 |