Variant information
Systematic Name (NM_004992.3:) |
c.1160_1200del41 |
---|---|
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1196_1236del41 |
Alternate Protein name (NP_001104262) |
p.(Pro399Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296119del41 |
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.1160_1200del41 | p.Pro387fs | Female | Rett syndrome-Classical | 348 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
2 | c.1160_1200del41 | p.Pro387fs | Female | Rett syndrome-Not certain | 1842 | :Bunyan, D.:: | View details |