Variant information
Systematic Name (NM_004992.3:) |
CDKL5: c.119C>T |
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Protein name (NP_004983) |
CDKL5: p.A40V |
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 | CDKL5 |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | CDKL5: c.119C>T | CDKL5: p.A40V | Female | Not Rett synd. | 6582 | ::: | View details |