Variant information
Systematic Name (NM_004992.3:) |
c.[*8500C>G];[*8503delC] |
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Protein name (NP_004983) |
3'UTR variation |
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 | 3'UTR variation |
Domain | 3'UTR |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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1 | c.[*8500C>G];[*8503delC] | 3'UTR variation | Female | Not Rett synd. | 3861 | Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 | View details |