Variant information
Systematic Name (NM_004992.3:) |
c.[=/473C>T];[473C>T] |
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Protein name (NP_004983) |
p.[=/Thr158Met];[Thr158Met] |
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 | missense |
Domain | MBD |
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.[=/473C>T];[473C>T] | p.[=/Thr158Met];[Thr158Met] | Female | Rett syndrome-classical | 3082 | Homozygosity for MECP2 gene in a girl with classical Rett syndrome:Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.:European Journal of Medical Genetics: 17881312 | View details |