Variant information
Systematic Name (NM_004992.3:) |
c.1170_1207del38 |
---|---|
Protein name (NP_004983) |
p.Pro391* |
Alternate systematic Name (NM_001110792.1:) |
c.1206_1243del38 |
Alternate Protein name (NP_001104262) |
p.(Pro403*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296072_153296109del38 |
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.1170_1207del38 | p.Pro391* | Female | Not Known | 4419 | :Das, S., Dempsey, M. U. Chicago:: | View details |