Variant information
Systematic Name (NM_004992.3:) |
c.620dupT |
---|---|
Protein name (NP_004983) |
p.Gln208fs |
Alternate systematic Name (NM_001110792.1:) |
c.656dupT |
Alternate Protein name (NP_001104262) |
p.(Gln220Alafs*28) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296659dupA |
Mutation type | Frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.620dupT | p.Gln208fs | Unknown | Rett syndrome-Classical | 843 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 | View details |