Variant information
Systematic Name (NM_004992.3:) |
c.1265_1289del25insAGCGGCCG |
---|---|
Protein name (NP_004983) |
p.Gly422fs |
Alternate systematic Name (NM_001110792.1:) |
c.1301_1325delinsAGCGGCCG |
Alternate Protein name (NP_001104262) |
p.(Gly434Glufs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295990_153296014delinsCGGCCGCT |
Mutation type | Frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1265_1289del25insAGCGGCCG | p.Gly422fs | Female | Rett syndrome-Not certain | 1824 | :Bunyan, D.:: | View details |