Variant information
Systematic Name (NM_004992.3:) |
c.1450_*12del24 |
---|---|
Protein name (NP_004983) |
p.Val485_Ser486delins21 |
Alternate systematic Name (NM_001110792.1:) |
c.1486_*12del24 |
Alternate Protein name (NP_001104262) |
p.(Val497_Ser498delinsIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295806_153295829del24 |
Mutation type | In-frame insertion or 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.1450_*12del24 | p.Val485_Ser486delins21 | Female | Rett syndrome-Atypical | 406 | ::: | View details |