Variant information
Systematic Name (NM_004992.3:) |
c.617delG |
---|---|
Protein name (NP_004983) |
p.Gly206fs |
Alternate systematic Name (NM_001110792.1:) |
c.653delG |
Alternate Protein name (NP_001104262) |
p.(Gly218Valfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296662delC |
Mutation type | Frameshift insertion or deletion |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.617delG | p.Gly206fs | Female | Rett syndrome-Classical | 2091 | :Cardiff, UK:: | View details |