Variant information
Systematic Name (NM_004992.3:) |
c.345delC |
---|---|
Protein name (NP_004983) |
p.Ser116fs |
Alternate systematic Name (NM_001110792.1:) |
c.381delC |
Alternate Protein name (NP_001104262) |
p.(Ser128Leufs*9) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297690delG |
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.345delC | p.Ser116fs | Female | Rett syndrome-Classical | 1201 | Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737 | View details |