Variant information
Systematic Name (NM_004992.3:) |
c.[1089_1129del41;1156_1197del42] |
---|---|
Protein name (NP_004983) |
p.Lys364Glyfs*13 |
Alternate systematic Name (NM_001110792.1:) |
c.[1125_1165del41;1192_1233del42] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296150_153296190del41;153296082_153296123del42] |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1089_1129del41;1156_1197del42] | p.Lys364Glyfs*13 | Female | Rett syndrome-not certain | 5245 | 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 |