Variant information
Systematic Name (NM_004992.3:) |
c.431delA |
---|---|
Protein name (NP_004983) |
p.Lys144fs |
Alternate systematic Name (NM_001110792.1:) |
c.467delA |
Alternate Protein name (NP_001104262) |
p.(Lys156Argfs*2) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296848delT |
Mutation type | Frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.431delA | p.Lys144fs | Female | Rett syndrome-Classical | 331 | 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 |