Variant information
Systematic Name (NM_004992.3:) |
c.[401C>G;1168_1173del6] |
---|---|
Protein name (NP_004983) |
p.[Ser134Cys;Pro390_Pro391del] |
Alternate systematic Name (NM_001110792.1:) |
c.[437C>G;1204_1209del6] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296878G>C;153296106_153296111del6] |
Mutation type | missense, in-frame insertion or deletion |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[401C>G;1168_1173del6] | p.[Ser134Cys;Pro390_Pro391del] | Female | Rett syndrome-not certain | 5249 | 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 |