Variant information
Systematic Name (NM_004992.3:) |
c.[808C>T(;) 1233C>T] |
---|---|
Protein name (NP_004983) |
p.[Arg270*(;) Ser411Ser] |
Alternate systematic Name (NM_001110792.1:) |
c.[844C>T;1269C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296471G>A;153296046G>A] |
Mutation type | nonsense, silent |
Domain | TRD-NLS, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[808C>T(;) 1233C>T] | p.[Arg270*(;) Ser411Ser] | Female | Rett syndrome-Classical | 454 | ::: | View details |