Variant information
Systematic Name (NM_004992.3:) |
c.611_612delinsAG |
---|---|
Protein name (NP_004983) |
p.Ser204* |
Alternate systematic Name (NM_001110792.1:) |
c.647_648delinsAG |
Alternate Protein name (NP_001104262) |
p.(Ser216*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296667_153296668delinsCT |
Mutation type | frameshift combined insertion and 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.611_612delinsAG | p.Ser204* | Female | Rett syndrome-Not certain | 1873 | :Bunyan, D.:: | View details |