Variant information
Systematic Name (NM_004992.3:) |
Not known |
---|---|
Protein name (NP_004983) |
p.Ser373* |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | Nonsense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | Not known | p.Ser373* | Female | Rett syndrome-Atypical | 2337 | :Cardiff, UK:: | View details |