Variant information
Systematic Name (NM_004992.3:) |
c.1157_1191del35 |
---|---|
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1227del35 |
Alternate Protein name (NP_001104262) |
p.(Leu398Argfs*7) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296088_153296122del35 |
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.1157_1191del35 | p.Leu386fs | Female | Not Known | 1742 | :Friez, Michael:: | View details |
2 | c.1157_1191del35 | p.Leu386fs | Female | Not Known | 1754 | :Friez, Michael:: | View details |
3 | c.1157_1191del35 | p.Leu386fs | Female | Not Known | 1776 | :Friez, Michael:: | View details |
4 | c.1157_1191del35 | p.Leu386fs | Female | Not Known | 1780 | :Friez, Michael:: | View details |
5 | c.1157_1191del35 | p.Leu386fs | Female | Not Known | 1814 | :Friez, Michael:: | View details |