Variant information
Systematic Name (NM_004992.3:) |
c.1087A>T |
---|---|
Protein name (NP_004983) |
p.Lys363* |
Alternate systematic Name (NM_001110792.1:) |
c.1123A>T |
Alternate Protein name (NP_001104262) |
p.(Lys375*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296192T>A |
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 | c.1087A>T | p.Lys363* | Female | Not Known | 1717 | :Friez, Michael:: | View details |
2 | c.1087A>T | p.Lys363* | Female | Rett syndrome-Classical | 2106 | :Cardiff, UK:: | View details |