Variant information
Systematic Name (NM_004992.3:) |
c.-116_-114dup |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.45_47dup |
Alternate Protein name (NP_001104262) |
p.(Gly16dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363076_153363078dup |
Mutation type | in-frame insertion or deletion |
Domain | N-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-116_-114dup | p.(=) | Male | Not Known | 6899 | ::: | View details |