Variant information
Systematic Name (NM_004992.3:) |
c.[1121_1311del191; 1326_1334del9] |
---|---|
Protein name (NP_004983) |
p.Glu374fs |
Alternate systematic Name (NM_001110792.1:) |
c.[1157_1347del191;1362_1370del9] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153295968_153296158del191;153295945_153295953del9] |
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.[1121_1311del191; 1326_1334del9] | p.Glu374fs | Female | Rett syndrome-not certain | 4708 | 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 |