Variant information
Systematic Name (NM_004992.3:) |
complex rearrangement |
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Protein name (NP_004983) |
complex rearrangement |
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 | Not known |
Domain | Not known |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | complex rearrangement | complex rearrangement | Female | Rett syndrome-Classical | 2070 | :Cardiff, UK:: | View details |