Variant information
Systematic Name (NM_004992.3:) |
c.[203C>G;1094_1138del45] |
---|---|
Protein name (NP_004983) |
p.Ser68* |
Alternate systematic Name (NM_001110792.1:) |
c.[239C>G;1130_1174del45] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297832G>C;153296141_153296185del45] |
Mutation type | nonsense, in-frame insertion or deletion |
Domain | N-term, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[203C>G;1094_1138del45] | p.Ser68* | Female | Rett syndrome-not certain | 5243 | 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 |