Variant information
Systematic Name (NM_004992.3:) |
c.428_429insT |
---|---|
Protein name (NP_004983) |
p.Glu143fs |
Alternate systematic Name (NM_001110792.1:) |
c.464_465insT |
Alternate Protein name (NP_001104262) |
p.(Glu155Aspfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296850_153296851insA |
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.428_429insT | p.Glu143fs | Female | Rett syndrome-Not certain | 1641 | :Bunyan, D.:: | View details |