Variant information
Systematic Name (NM_004992.3:) |
c.46C>T |
---|---|
Protein name (NP_004983) |
p.Gln16* |
Alternate systematic Name (NM_001110792.1:) |
c.82C>T |
Alternate Protein name (NP_001104262) |
p.(Gln28*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297989G>A |
Mutation type | Nonsense |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.46C>T | p.Gln16* | Female | Not Known | 1678 | :Friez, Michael:: | View details |
2 | c.46C>T | p.Gln16* | Female | Not Known | 1762 | :Friez, Michael:: | View details |