Variant information
Systematic Name (NM_004992.3:) |
c.1162_1163delinsTA |
---|---|
Protein name (NP_004983) |
p.Pro388* |
Alternate systematic Name (NM_001110792.1:) |
c.1198_1199delinsTA |
Alternate Protein name (NP_001104262) |
p.(Pro400*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296116_153296117delinsTA |
Mutation type | frameshift combined 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.1162_1163delinsTA | p.Pro388* | Female | Not Rett synd. | 2659 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 | View details |