Variant information
Systematic Name (NM_004992.3:) |
c.1135_1142delCCCGTGCC |
---|---|
Protein name (NP_004983) |
p.Pro379fs |
Alternate systematic Name (NM_001110792.1:) |
c.1171_1178delCCCGTGCC |
Alternate Protein name (NP_001104262) |
p.(Pro391Thrfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296137_153296144delGGCACGGG |
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.1135_1142delCCCGTGCC | p.Pro379fs | Female | Not Rett synd. | 2000 | Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion:Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert:European Journal of Pediatrics: 15558314 | View details |