Variant information
Systematic Name (NM_004992.3:) |
c.1271_1416del146 |
---|---|
Protein name (NP_004983) |
p.Leu424fs |
Alternate systematic Name (NM_001110792.1:) |
c.1307_1452del146 |
Alternate Protein name (NP_001104262) |
p.(Leu436Argfs*14) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295863_153296008del146 |
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.1271_1416del146 | p.Leu424fs | Female | Not Known | 1662 | :Friez, Michael:: | View details |