Variant information
Systematic Name (NM_004992.3:) |
c.229_238del10 |
---|---|
Protein name (NP_004983) |
p.Ala77fs |
Alternate systematic Name (NM_001110792.1:) |
c.265_274del10 |
Alternate Protein name (NP_001104262) |
p.(Ala89Profs*45) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297797_153297806del10 |
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.229_238del10 | p.Ala77fs | Female | Not Known | 1713 | :Friez, Michael:: | View details |
2 | c.229_238del10 | p.Ala77fs | Female | Rett syndrome-classical | 6640 | ::: | View details |