Variant information
Systematic Name (NM_004992.3:) |
c.248-?_320+?del (exon 3 deletion) |
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Protein name (NP_004983) |
p.? |
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 | in-frame insertion or deletion |
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.248-?_320+?del (exon 3 deletion) | p.? | Female | Rett syndrome-classical | 4806 | Distinct de novo deletions in a brother-sister pair with RTT: a case report:Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.:American Journal of Medical Genetics B: 21812101 | View details |