Variant information
Systematic Name (NM_004992.3:) |
c.[276_277insG(;) 1162_1179del18] |
---|---|
Protein name (NP_004983) |
p.[Pro94fs(;) Pro388_Pro393del] |
Alternate systematic Name (NM_001110792.1:) |
c.[312_313insG;1198_1215del18] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297758_153297759insC;153296100_153296117del18] |
Mutation type | frameshift insertion or deletion, 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.[276_277insG(;) 1162_1179del18] | p.[Pro94fs(;) Pro388_Pro393del] | Female | Rett syndrome-not certain | 4713 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |