Variant information
Systematic Name (NM_004992.3:) |
c.1338_1354del |
---|---|
Protein name (NP_004983) |
p.Ala447fs |
Alternate systematic Name (NM_001110792.1:) |
c.1374_1390del |
Alternate Protein name (NP_001104262) |
p.(Ala459Profs*34) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295925_153295941del |
Mutation type | Frameshift 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.1338_1354del | p.Ala447fs | Female | Not Known | 1716 | :Friez, Michael:: | View details |