Variant information
Systematic Name (NM_004992.3:) |
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) |
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Protein name (NP_004983) |
p.Arg9? |
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-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) | p.Arg9? | Female | Rett syndrome-congenital | 4827 | Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2:Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.:Brain & Development: 22001500 | View details |