Variant information
Systematic Name (NM_004992.3:) |
c.[502C>T(;)897C>T] |
---|---|
Protein name (NP_004983) |
p.[Arg168*(;)Thr299Thr] |
Alternate systematic Name (NM_001110792.1:) |
c.[538C>T;933C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296777G>A;153296382G>A] |
Mutation type | Nonsense, silent |
Domain | Inter-domain region, TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[502C>T(;)897C>T] | p.[Arg168*(;)Thr299Thr] | Female | Rett syndrome-Classical | 2246 | :Cardiff, UK:: | View details |