Variant information
Systematic Name (NM_004992.3:) |
c.753_754dup |
---|---|
Protein name (NP_004983) |
p.Gly252fs |
Alternate systematic Name (NM_001110792.1:) |
c.789_790dup |
Alternate Protein name (NP_001104262) |
p.(Gly264Alafs*38) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296525_153296526dup |
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.753_754dup | p.Gly252fs | Female | Rett syndrome-classical | 6667 | ::: | View details |