Variant information
Systematic Name (NM_004992.3:) |
c.1157_1192del36 |
---|---|
Protein name (NP_004983) |
p.Leu386_Asp398delinsHis |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1228del36 |
Alternate Protein name (NP_001104262) |
p.(Leu398_Asp410delinsHis) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296087_153296122del36 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1157_1192del36 | p.Leu386_Asp398delinsHis | Female | Not Known | 1751 | :Friez, Michael:: | View details |