Variant information
Systematic Name (NM_004992.3:) |
c.-140_-138dup3 |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.21_23dup3 |
Alternate Protein name (NP_001104262) |
p.(Ala8dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363100_153363102dup3 |
Mutation type | In-frame insertion or deletion |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-140_-138dup3 | p.(=) | Female | Not Known | 2163 | :Cardiff, UK:: | View details |