Variant information
Systematic Name (NM_004992.3:) |
c.[502C>T;1180G>A];[832G>A] |
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Protein name (NP_004983) |
p.[Arg168*];[Ala278Thr] |
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 | nonsense, missense |
Domain | inter-domain region, TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[502C>T;1180G>A];[832G>A] | p.[Arg168*];[Ala278Thr] | Female | Rett syndrome-not certain | 5235 | Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494 | View details |