Variant information
Systematic Name (NM_004992.3:) |
c.[1024_1025insAG;1029delG;1155_1209del55] |
---|---|
Protein name (NP_004983) |
p.Proro342_Proro403delins44 |
Alternate systematic Name (NM_001110792.1:) |
c.[1060_1061insAG;1065delG;1191_1245del55] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296254_153296255insCT;153296250delC;153296070_153296124del55] |
Mutation type | combined in-frame insertion and 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.[1024_1025insAG;1029delG;1155_1209del55] | p.Proro342_Proro403delins44 | Female | Rett syndrome-not certain | 5246 | 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 |