Variant information
Systematic Name (NM_004992.3:) |
c.1129_1193del65 |
---|---|
Protein name (NP_004983) |
p.Lys377fs |
Alternate systematic Name (NM_001110792.1:) |
c.1165_1229del65 |
Alternate Protein name (NP_001104262) |
p.(Lys389Profs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296086_153296150del65 |
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.1129_1193del65 | p.Lys377fs | Female | Not Known | 1736 | :Friez, Michael:: | View details |