Variant information
Systematic Name (NM_004992.3:) |
c.318_321dup |
---|---|
Protein name (NP_004983) |
p.Leu108fs |
Alternate systematic Name (NM_001110792.1:) |
c.354_357dup |
Alternate Protein name (NP_001104262) |
p.(Leu120Glufs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297714_153297717dup |
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.318_321dup | p.Leu108fs | Female | Rett syndrome-classical | 4932 | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 | View details |