Variant information
Systematic Name (NM_004992.3:) |
c.210C>T |
---|---|
Protein name (NP_004983) |
p.Ser70Ser |
Alternate systematic Name (NM_001110792.1:) |
c.246C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297825G>A |
Mutation type | Silent |
Domain | N-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.210C>T | p.Ser70Ser | Female | Not Known | 1729 | :Friez, Michael:: | View details |
2 | c.210C>T | p.Ser70Ser | Male | Not Known | 1737 | :Friez, Michael:: | View details |
3 | c.210C>T | p.Ser70Ser | Female | Not Known | 1763 | :Friez, Michael:: | View details |
4 | c.210C>T | p.Ser70Ser | Male | Not Known | 1771 | :Friez, Michael:: | View details |